Objective: To review the literature on the current situation of neonatal screening worldwide and ... more Objective: To review the literature on the current situation of neonatal screening worldwide and in Brazil. To define the role of pediatricians in neonatal screening programs. Sources: Scientific articles selected by means of searches run on the medical websites MEDLINE, Cochrane, PubMed (MeSH) and MD Consult, using the keywords newborn screening, neonatal, pediatrics, diagnosis, primary care, ethics and their equivalents in Portuguese, in isolation and in combination, in addition to medical textbooks on genetics and inborn errors of metabolism, published between January 1998 and December 2007, the National Neonatal Screening Program technical standards and routines manual, and Ministry of Health decree 822/2001. Summary of the findings: Published data demonstrate a great diversity in the number of diseases included in the neonatal screening programs of different countries. In Brazil, the National Neonatal Screening Program was set up in 2001, to screen for phenylketonuria, congenital hypothyroidism, sickle-cell anemia and cystic fibrosis. Screening for a wider range of conditions using mass spectrometry is currently the subject of disagreement and discussion of financial and ethical issues. Conclusions: Neonatal screening is one of the most important advances for the prevention of pediatric diseases. Nevertheless, implementation is complex, multidisciplinary and dependent on public health policies and, to date, there is no consensus on which diseases should be included. A large number of scientific and ethical questions need to be discussed in order to better define the screening panels to be implemented. Pediatricians have important roles to play in all stages of neonatal screening programs.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2018
Objectives: To investigate and describe the oral features in patients with Williams-Beuren syndro... more Objectives: To investigate and describe the oral features in patients with Williams-Beuren syndrome (WBS). Methods: Seventeen patients diagnosed with WBS were examined. In all the cases, WBS was determined based on molecular diagnosis. All the patients underwent clinical evaluation, which included general and oral examinations, and radiographic evaluation. Results: The mean age of the patients was 14 years and 6 months (ranging from 2 to 36 years). Eleven patients were female. Oroscopy exams revealed malocclusion in 16 patients (94.12%). Eleven patients (64.7%) exhibited dental midline deviation, and 9 patients (52.9%) had a high-arched palate. Mandibular retrognathism was found in 6 patients (35.3%) and the dental arches had an irregular alignment in 3 (17.6%) patients. Two patients (11.8%) exhibited tooth crowding and 3 (17.6%) exhibited excessive interdental spacing. Microdontia was observed in 3 patients (17.6%), and radiographic examination detected agenesis in 3 patients (17.6%). Conclusions: Patients with WBS can have important oral abnormalities. The present findings of oral alterations in WBS contribute to knowledge regarding manifestations of the disease. Early detection and treatment of the oral alterations in individuals with the disease can provide appropriate support and improve the quality of life of these patients.
Williams-Beuren syndrome is a multisystemic genetic disorder caused by a contiguous gene deletion... more Williams-Beuren syndrome is a multisystemic genetic disorder caused by a contiguous gene deletion at 7q11.23. Keratoconus is a complex disease and it is suspected to have a genetic origin, although the specific gene responsible for keratoconus has not been identified. Although there are several ocular features in Williams-Beuren syndrome, keratoconus is not regularly described as part of this syndrome. To report a new patient with keratoconus and Williams-Beuren syndrome. This is the third case of an association between Williams-Beuren syndrome and keratoconus. The authors believe that the Williams-Beuren syndrome chromosome region can be a possible target for further investigation as the genetic basis of keratoconus.
Melnick-Needles syndrome (MNS) (OMIM 309350) is a rare, X-linked dominant condition, caused by mu... more Melnick-Needles syndrome (MNS) (OMIM 309350) is a rare, X-linked dominant condition, caused by mutations in the filamin A gene (FLNA, on Xq28). In females, the syndrome presents with bone dysplasia and characteristic facial changes. Affected males may show two different phenotypes. One is similar to the female phenotype and is seen in children born to unaffected mothers and suggesting new mutations. Alternatively, males born to affected mothers have an embryonic or perinatally lethal disorder. It has been claimed that MNS constitutes part of a spectrum including frontometaphyseal dysplasia, otopalatodigital syndrome type 1 (OPD1) and otopalatodigital syndrome type 2 (OPD2). These conditions are produced by different mutations in the filamin A gene (FLNA). MNS is caused by three different mutations in FLNA exon 22, to date detected only in females. We describe the clinical manifestations and present the results of FLNA exon 22 mutations screening in two boys with the perinatally lethal form of MNS and their affected mothers. In order to obtain DNA amplification from paraffin-embedded tissues, we designed a new method based on hemi-nested PCR. One of the children (and his mother) had a previously undescribed mutation produced by a double SNP in the positions 3776 and 3777 of the gene and leading to an amino acid substitution (NP_001447:p.[Gly1176Asp]). The second child (and his mother) had an already known mutation (NP_001447.2:p[.Ser1199Leu]). This is the first report confirming the presence FLNA mutations in boys with the perinatally lethal phenotype of MNS. (
Medicina Oral Patología Oral y Cirugia Bucal, 2015
Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great to... more Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits and broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical phenotypes related to PS. The genetic analysis was able to detect the mutations Cys278Phe, Cys342Arg, and Val359Leu in three of these families. Two mutations were de novo, with one familial. We identified pathogenic mutations in four PS cases in five Brazilian families by PCR sequencing of FGFR1 exon 5 and FGFR2 exons 5, 8, 10, 11, 15, and 16. The clinical and genetic aspects of these families confirm that this syndrome can be clinically variable, with different mutations in the FGFR2 responsible for PS.
Medicina Oral Patología Oral y Cirugia Bucal, 2017
Background: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterize... more Background: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Oral abnormalities are also described in clinical manifestations of the disease. This paper describes orofacial features in patients with WBS. Material and Methods: Seventeen patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography. Results: Malocclusion, specifically with dental midline deviation, and high-arched palate were the most common findings. Conclusions: The present results contribute to knowledge on the orofacial manifestations of WBS. Since such patients with WBS may develop severe oral abnormalities, early detection and treatment can help improve their quality of life.
A displasia ectodérmica (DE) compreende um grupo grande e heterogêneo de doenças hereditárias que... more A displasia ectodérmica (DE) compreende um grupo grande e heterogêneo de doenças hereditárias que se caracteriza por apresentar manifestações clínicas relacionadas às anomalias das estruturas de origem ectodérmica, principalmente nos cabelos, unhas, dentes e pele. Este trabalho descreve o caso clínico de um paciente do sexo masculino de 11 anos de idade, que compareceu à clínica odontológica de uma instituição de ensino superior de Belo Horizonte MG. A criança apresentava-se com características da displasia ectodérmica, na forma hipoidrótica, e com história de diversos indivíduos afetados na família materna. Fez-se, ainda, revisão da literatura e discussão da etiologia e tratamento para o caso descrito. Descritores: Displasia ectodérmica. Anodontia. Adolescente.
Abstract Objectives: Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by the delet... more Abstract Objectives: Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by the deletion of contiguous genes on chromosome 7q11.23. Ophthalmologic abnormalities and deficits in visual motor integration are important features of WBS. Here we describe our experience with Brazilian WBS patients and their ophthalmologic features. Methods: Sixteen patients with confirmed WBS went through thorough ophthalmologic examination. Results: The most frequent ocular findings in our group of patients were stellate iris pattern (81.2%), hyperopic astigmatism (50%), hyperopia (37.5%), tortuosity of retinal vessel (37.5%) and strabismus (18.7%). Conclusions: This is the second report of ophthalmologic abnormalities in a group of Brazilian individuals with WBS. It is extremely valuable that specific populations are studied so that clinical diagnosis can be refined and management of patients can be driven to the most common presentations of the disease.
Objective: To review the literature on the current situation of neonatal screening worldwide and ... more Objective: To review the literature on the current situation of neonatal screening worldwide and in Brazil. To define the role of pediatricians in neonatal screening programs. Sources: Scientific articles selected by means of searches run on the medical websites MEDLINE, Cochrane, PubMed (MeSH) and MD Consult, using the keywords newborn screening, neonatal, pediatrics, diagnosis, primary care, ethics and their equivalents in Portuguese, in isolation and in combination, in addition to medical textbooks on genetics and inborn errors of metabolism, published between January 1998 and December 2007, the National Neonatal Screening Program technical standards and routines manual, and Ministry of Health decree 822/2001. Summary of the findings: Published data demonstrate a great diversity in the number of diseases included in the neonatal screening programs of different countries. In Brazil, the National Neonatal Screening Program was set up in 2001, to screen for phenylketonuria, congenital hypothyroidism, sickle-cell anemia and cystic fibrosis. Screening for a wider range of conditions using mass spectrometry is currently the subject of disagreement and discussion of financial and ethical issues. Conclusions: Neonatal screening is one of the most important advances for the prevention of pediatric diseases. Nevertheless, implementation is complex, multidisciplinary and dependent on public health policies and, to date, there is no consensus on which diseases should be included. A large number of scientific and ethical questions need to be discussed in order to better define the screening panels to be implemented. Pediatricians have important roles to play in all stages of neonatal screening programs.
Oculodentodigital dysplasia (ODDD) is a rare inherited disorder affecting the development of the ... more Oculodentodigital dysplasia (ODDD) is a rare inherited disorder affecting the development of the face, eyes, teeth, and limbs. The majority of cases of ODDD are inherited as an autosomal dominant condition. There are few reports of probable autosomal recessive transmission. Affected patients exhibit a distinctive physiognomy with a narrow nose, hypoplastic alae nasi, and anteverted nostrils, bilateral microphthalmos, and microcornea. Sometimes iris anomalies and secondary glaucoma are present. There are malformations of the distal extremities such as syndactyly. In addition, there are defects in the dental enamel with hypoplasia and yellow discoloration of the teeth. Less common features include hypotrichosis, intracranial calcifications, and conductive deafness secondary to recurrent otitis media. We describe three brothers with ODDD. Their parents are first cousins and present no features of ODDD. These data are in favor of autosomal recessive inheritance and suggest genetic heterogeneity for this entity.
Objective: To review the literature on the current situation of neonatal screening worldwide and ... more Objective: To review the literature on the current situation of neonatal screening worldwide and in Brazil. To define the role of pediatricians in neonatal screening programs. Sources: Scientific articles selected by means of searches run on the medical websites MEDLINE, Cochrane, PubMed (MeSH) and MD Consult, using the keywords newborn screening, neonatal, pediatrics, diagnosis, primary care, ethics and their equivalents in Portuguese, in isolation and in combination, in addition to medical textbooks on genetics and inborn errors of metabolism, published between January 1998 and December 2007, the National Neonatal Screening Program technical standards and routines manual, and Ministry of Health decree 822/2001. Summary of the findings: Published data demonstrate a great diversity in the number of diseases included in the neonatal screening programs of different countries. In Brazil, the National Neonatal Screening Program was set up in 2001, to screen for phenylketonuria, congenital hypothyroidism, sickle-cell anemia and cystic fibrosis. Screening for a wider range of conditions using mass spectrometry is currently the subject of disagreement and discussion of financial and ethical issues. Conclusions: Neonatal screening is one of the most important advances for the prevention of pediatric diseases. Nevertheless, implementation is complex, multidisciplinary and dependent on public health policies and, to date, there is no consensus on which diseases should be included. A large number of scientific and ethical questions need to be discussed in order to better define the screening panels to be implemented. Pediatricians have important roles to play in all stages of neonatal screening programs.
Oculodentodigital dysplasia (ODDD) is a rare inherited disorder affecting the development of the ... more Oculodentodigital dysplasia (ODDD) is a rare inherited disorder affecting the development of the face, eyes, teeth, and limbs. The majority of cases of ODDD are inherited as an autosomal dominant condition. There are few reports of probable autosomal recessive transmission. Affected patients exhibit a distinctive physiognomy with a narrow nose, hypoplastic alae nasi, and anteverted nostrils, bilateral microphthalmos, and microcornea. Sometimes iris anomalies and secondary glaucoma are present. There are malformations of the distal extremities such as syndactyly. In addition, there are defects in the dental enamel with hypoplasia and yellow discoloration of the teeth. Less common features include hypotrichosis, intracranial calcifications, and conductive deafness secondary to recurrent otitis media. We describe three brothers with ODDD. Their parents are first cousins and present no features of ODDD. These data are in favor of autosomal recessive inheritance and suggest genetic heterogeneity for this entity.
Objective: To review the literature on the current situation of neonatal screening worldwide and ... more Objective: To review the literature on the current situation of neonatal screening worldwide and in Brazil. To define the role of pediatricians in neonatal screening programs. Sources: Scientific articles selected by means of searches run on the medical websites MEDLINE, Cochrane, PubMed (MeSH) and MD Consult, using the keywords newborn screening, neonatal, pediatrics, diagnosis, primary care, ethics and their equivalents in Portuguese, in isolation and in combination, in addition to medical textbooks on genetics and inborn errors of metabolism, published between January 1998 and December 2007, the National Neonatal Screening Program technical standards and routines manual, and Ministry of Health decree 822/2001. Summary of the findings: Published data demonstrate a great diversity in the number of diseases included in the neonatal screening programs of different countries. In Brazil, the National Neonatal Screening Program was set up in 2001, to screen for phenylketonuria, congenital hypothyroidism, sickle-cell anemia and cystic fibrosis. Screening for a wider range of conditions using mass spectrometry is currently the subject of disagreement and discussion of financial and ethical issues. Conclusions: Neonatal screening is one of the most important advances for the prevention of pediatric diseases. Nevertheless, implementation is complex, multidisciplinary and dependent on public health policies and, to date, there is no consensus on which diseases should be included. A large number of scientific and ethical questions need to be discussed in order to better define the screening panels to be implemented. Pediatricians have important roles to play in all stages of neonatal screening programs.
Objective: To review the literature on the current situation of neonatal screening worldwide and ... more Objective: To review the literature on the current situation of neonatal screening worldwide and in Brazil. To define the role of pediatricians in neonatal screening programs. Sources: Scientific articles selected by means of searches run on the medical websites MEDLINE, Cochrane, PubMed (MeSH) and MD Consult, using the keywords newborn screening, neonatal, pediatrics, diagnosis, primary care, ethics and their equivalents in Portuguese, in isolation and in combination, in addition to medical textbooks on genetics and inborn errors of metabolism, published between January 1998 and December 2007, the National Neonatal Screening Program technical standards and routines manual, and Ministry of Health decree 822/2001. Summary of the findings: Published data demonstrate a great diversity in the number of diseases included in the neonatal screening programs of different countries. In Brazil, the National Neonatal Screening Program was set up in 2001, to screen for phenylketonuria, congenital hypothyroidism, sickle-cell anemia and cystic fibrosis. Screening for a wider range of conditions using mass spectrometry is currently the subject of disagreement and discussion of financial and ethical issues. Conclusions: Neonatal screening is one of the most important advances for the prevention of pediatric diseases. Nevertheless, implementation is complex, multidisciplinary and dependent on public health policies and, to date, there is no consensus on which diseases should be included. A large number of scientific and ethical questions need to be discussed in order to better define the screening panels to be implemented. Pediatricians have important roles to play in all stages of neonatal screening programs.
Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology, 2018
Objectives: To investigate and describe the oral features in patients with Williams-Beuren syndro... more Objectives: To investigate and describe the oral features in patients with Williams-Beuren syndrome (WBS). Methods: Seventeen patients diagnosed with WBS were examined. In all the cases, WBS was determined based on molecular diagnosis. All the patients underwent clinical evaluation, which included general and oral examinations, and radiographic evaluation. Results: The mean age of the patients was 14 years and 6 months (ranging from 2 to 36 years). Eleven patients were female. Oroscopy exams revealed malocclusion in 16 patients (94.12%). Eleven patients (64.7%) exhibited dental midline deviation, and 9 patients (52.9%) had a high-arched palate. Mandibular retrognathism was found in 6 patients (35.3%) and the dental arches had an irregular alignment in 3 (17.6%) patients. Two patients (11.8%) exhibited tooth crowding and 3 (17.6%) exhibited excessive interdental spacing. Microdontia was observed in 3 patients (17.6%), and radiographic examination detected agenesis in 3 patients (17.6%). Conclusions: Patients with WBS can have important oral abnormalities. The present findings of oral alterations in WBS contribute to knowledge regarding manifestations of the disease. Early detection and treatment of the oral alterations in individuals with the disease can provide appropriate support and improve the quality of life of these patients.
Williams-Beuren syndrome is a multisystemic genetic disorder caused by a contiguous gene deletion... more Williams-Beuren syndrome is a multisystemic genetic disorder caused by a contiguous gene deletion at 7q11.23. Keratoconus is a complex disease and it is suspected to have a genetic origin, although the specific gene responsible for keratoconus has not been identified. Although there are several ocular features in Williams-Beuren syndrome, keratoconus is not regularly described as part of this syndrome. To report a new patient with keratoconus and Williams-Beuren syndrome. This is the third case of an association between Williams-Beuren syndrome and keratoconus. The authors believe that the Williams-Beuren syndrome chromosome region can be a possible target for further investigation as the genetic basis of keratoconus.
Melnick-Needles syndrome (MNS) (OMIM 309350) is a rare, X-linked dominant condition, caused by mu... more Melnick-Needles syndrome (MNS) (OMIM 309350) is a rare, X-linked dominant condition, caused by mutations in the filamin A gene (FLNA, on Xq28). In females, the syndrome presents with bone dysplasia and characteristic facial changes. Affected males may show two different phenotypes. One is similar to the female phenotype and is seen in children born to unaffected mothers and suggesting new mutations. Alternatively, males born to affected mothers have an embryonic or perinatally lethal disorder. It has been claimed that MNS constitutes part of a spectrum including frontometaphyseal dysplasia, otopalatodigital syndrome type 1 (OPD1) and otopalatodigital syndrome type 2 (OPD2). These conditions are produced by different mutations in the filamin A gene (FLNA). MNS is caused by three different mutations in FLNA exon 22, to date detected only in females. We describe the clinical manifestations and present the results of FLNA exon 22 mutations screening in two boys with the perinatally lethal form of MNS and their affected mothers. In order to obtain DNA amplification from paraffin-embedded tissues, we designed a new method based on hemi-nested PCR. One of the children (and his mother) had a previously undescribed mutation produced by a double SNP in the positions 3776 and 3777 of the gene and leading to an amino acid substitution (NP_001447:p.[Gly1176Asp]). The second child (and his mother) had an already known mutation (NP_001447.2:p[.Ser1199Leu]). This is the first report confirming the presence FLNA mutations in boys with the perinatally lethal phenotype of MNS. (
Medicina Oral Patología Oral y Cirugia Bucal, 2015
Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great to... more Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits and broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical phenotypes related to PS. The genetic analysis was able to detect the mutations Cys278Phe, Cys342Arg, and Val359Leu in three of these families. Two mutations were de novo, with one familial. We identified pathogenic mutations in four PS cases in five Brazilian families by PCR sequencing of FGFR1 exon 5 and FGFR2 exons 5, 8, 10, 11, 15, and 16. The clinical and genetic aspects of these families confirm that this syndrome can be clinically variable, with different mutations in the FGFR2 responsible for PS.
Medicina Oral Patología Oral y Cirugia Bucal, 2017
Background: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterize... more Background: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Oral abnormalities are also described in clinical manifestations of the disease. This paper describes orofacial features in patients with WBS. Material and Methods: Seventeen patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography. Results: Malocclusion, specifically with dental midline deviation, and high-arched palate were the most common findings. Conclusions: The present results contribute to knowledge on the orofacial manifestations of WBS. Since such patients with WBS may develop severe oral abnormalities, early detection and treatment can help improve their quality of life.
A displasia ectodérmica (DE) compreende um grupo grande e heterogêneo de doenças hereditárias que... more A displasia ectodérmica (DE) compreende um grupo grande e heterogêneo de doenças hereditárias que se caracteriza por apresentar manifestações clínicas relacionadas às anomalias das estruturas de origem ectodérmica, principalmente nos cabelos, unhas, dentes e pele. Este trabalho descreve o caso clínico de um paciente do sexo masculino de 11 anos de idade, que compareceu à clínica odontológica de uma instituição de ensino superior de Belo Horizonte MG. A criança apresentava-se com características da displasia ectodérmica, na forma hipoidrótica, e com história de diversos indivíduos afetados na família materna. Fez-se, ainda, revisão da literatura e discussão da etiologia e tratamento para o caso descrito. Descritores: Displasia ectodérmica. Anodontia. Adolescente.
Abstract Objectives: Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by the delet... more Abstract Objectives: Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by the deletion of contiguous genes on chromosome 7q11.23. Ophthalmologic abnormalities and deficits in visual motor integration are important features of WBS. Here we describe our experience with Brazilian WBS patients and their ophthalmologic features. Methods: Sixteen patients with confirmed WBS went through thorough ophthalmologic examination. Results: The most frequent ocular findings in our group of patients were stellate iris pattern (81.2%), hyperopic astigmatism (50%), hyperopia (37.5%), tortuosity of retinal vessel (37.5%) and strabismus (18.7%). Conclusions: This is the second report of ophthalmologic abnormalities in a group of Brazilian individuals with WBS. It is extremely valuable that specific populations are studied so that clinical diagnosis can be refined and management of patients can be driven to the most common presentations of the disease.
Objective: To review the literature on the current situation of neonatal screening worldwide and ... more Objective: To review the literature on the current situation of neonatal screening worldwide and in Brazil. To define the role of pediatricians in neonatal screening programs. Sources: Scientific articles selected by means of searches run on the medical websites MEDLINE, Cochrane, PubMed (MeSH) and MD Consult, using the keywords newborn screening, neonatal, pediatrics, diagnosis, primary care, ethics and their equivalents in Portuguese, in isolation and in combination, in addition to medical textbooks on genetics and inborn errors of metabolism, published between January 1998 and December 2007, the National Neonatal Screening Program technical standards and routines manual, and Ministry of Health decree 822/2001. Summary of the findings: Published data demonstrate a great diversity in the number of diseases included in the neonatal screening programs of different countries. In Brazil, the National Neonatal Screening Program was set up in 2001, to screen for phenylketonuria, congenital hypothyroidism, sickle-cell anemia and cystic fibrosis. Screening for a wider range of conditions using mass spectrometry is currently the subject of disagreement and discussion of financial and ethical issues. Conclusions: Neonatal screening is one of the most important advances for the prevention of pediatric diseases. Nevertheless, implementation is complex, multidisciplinary and dependent on public health policies and, to date, there is no consensus on which diseases should be included. A large number of scientific and ethical questions need to be discussed in order to better define the screening panels to be implemented. Pediatricians have important roles to play in all stages of neonatal screening programs.
Oculodentodigital dysplasia (ODDD) is a rare inherited disorder affecting the development of the ... more Oculodentodigital dysplasia (ODDD) is a rare inherited disorder affecting the development of the face, eyes, teeth, and limbs. The majority of cases of ODDD are inherited as an autosomal dominant condition. There are few reports of probable autosomal recessive transmission. Affected patients exhibit a distinctive physiognomy with a narrow nose, hypoplastic alae nasi, and anteverted nostrils, bilateral microphthalmos, and microcornea. Sometimes iris anomalies and secondary glaucoma are present. There are malformations of the distal extremities such as syndactyly. In addition, there are defects in the dental enamel with hypoplasia and yellow discoloration of the teeth. Less common features include hypotrichosis, intracranial calcifications, and conductive deafness secondary to recurrent otitis media. We describe three brothers with ODDD. Their parents are first cousins and present no features of ODDD. These data are in favor of autosomal recessive inheritance and suggest genetic heterogeneity for this entity.
Objective: To review the literature on the current situation of neonatal screening worldwide and ... more Objective: To review the literature on the current situation of neonatal screening worldwide and in Brazil. To define the role of pediatricians in neonatal screening programs. Sources: Scientific articles selected by means of searches run on the medical websites MEDLINE, Cochrane, PubMed (MeSH) and MD Consult, using the keywords newborn screening, neonatal, pediatrics, diagnosis, primary care, ethics and their equivalents in Portuguese, in isolation and in combination, in addition to medical textbooks on genetics and inborn errors of metabolism, published between January 1998 and December 2007, the National Neonatal Screening Program technical standards and routines manual, and Ministry of Health decree 822/2001. Summary of the findings: Published data demonstrate a great diversity in the number of diseases included in the neonatal screening programs of different countries. In Brazil, the National Neonatal Screening Program was set up in 2001, to screen for phenylketonuria, congenital hypothyroidism, sickle-cell anemia and cystic fibrosis. Screening for a wider range of conditions using mass spectrometry is currently the subject of disagreement and discussion of financial and ethical issues. Conclusions: Neonatal screening is one of the most important advances for the prevention of pediatric diseases. Nevertheless, implementation is complex, multidisciplinary and dependent on public health policies and, to date, there is no consensus on which diseases should be included. A large number of scientific and ethical questions need to be discussed in order to better define the screening panels to be implemented. Pediatricians have important roles to play in all stages of neonatal screening programs.
Oculodentodigital dysplasia (ODDD) is a rare inherited disorder affecting the development of the ... more Oculodentodigital dysplasia (ODDD) is a rare inherited disorder affecting the development of the face, eyes, teeth, and limbs. The majority of cases of ODDD are inherited as an autosomal dominant condition. There are few reports of probable autosomal recessive transmission. Affected patients exhibit a distinctive physiognomy with a narrow nose, hypoplastic alae nasi, and anteverted nostrils, bilateral microphthalmos, and microcornea. Sometimes iris anomalies and secondary glaucoma are present. There are malformations of the distal extremities such as syndactyly. In addition, there are defects in the dental enamel with hypoplasia and yellow discoloration of the teeth. Less common features include hypotrichosis, intracranial calcifications, and conductive deafness secondary to recurrent otitis media. We describe three brothers with ODDD. Their parents are first cousins and present no features of ODDD. These data are in favor of autosomal recessive inheritance and suggest genetic heterogeneity for this entity.
Objective: To review the literature on the current situation of neonatal screening worldwide and ... more Objective: To review the literature on the current situation of neonatal screening worldwide and in Brazil. To define the role of pediatricians in neonatal screening programs. Sources: Scientific articles selected by means of searches run on the medical websites MEDLINE, Cochrane, PubMed (MeSH) and MD Consult, using the keywords newborn screening, neonatal, pediatrics, diagnosis, primary care, ethics and their equivalents in Portuguese, in isolation and in combination, in addition to medical textbooks on genetics and inborn errors of metabolism, published between January 1998 and December 2007, the National Neonatal Screening Program technical standards and routines manual, and Ministry of Health decree 822/2001. Summary of the findings: Published data demonstrate a great diversity in the number of diseases included in the neonatal screening programs of different countries. In Brazil, the National Neonatal Screening Program was set up in 2001, to screen for phenylketonuria, congenital hypothyroidism, sickle-cell anemia and cystic fibrosis. Screening for a wider range of conditions using mass spectrometry is currently the subject of disagreement and discussion of financial and ethical issues. Conclusions: Neonatal screening is one of the most important advances for the prevention of pediatric diseases. Nevertheless, implementation is complex, multidisciplinary and dependent on public health policies and, to date, there is no consensus on which diseases should be included. A large number of scientific and ethical questions need to be discussed in order to better define the screening panels to be implemented. Pediatricians have important roles to play in all stages of neonatal screening programs.
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