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1.
Am J Med Genet A ; 194(6): e63561, 2024 06.
Artigo em Inglês | MEDLINE | ID: mdl-38352994

RESUMO

CHARGE syndrome is a rare autosomal dominant syndrome characterized by multiple congenital anomalies including coloboma, heart defects, ear anomalies, and developmental delay, caused by pathogenic variants in the CHD7 gene. The discovery of the molecular basis of this syndrome increased the number of cases reported and expanded the phenotype and clinical variability. Limb anomalies are occasional clinical findings in this syndrome, present in about 30% of reported cases. The occurrence of limb anomalies in this syndrome suggests that it should be considered as part of the phenotypic spectrum. Here, we describe an individual with CHARGE syndrome presenting unilateral monodactyly.


Assuntos
Síndrome CHARGE , DNA Helicases , Fenótipo , Humanos , Síndrome CHARGE/genética , Síndrome CHARGE/diagnóstico , Síndrome CHARGE/patologia , Síndrome CHARGE/complicações , DNA Helicases/genética , Proteínas de Ligação a DNA/genética , Masculino , Feminino , Mutação , Deformidades Congênitas dos Membros/genética , Deformidades Congênitas dos Membros/patologia , Deformidades Congênitas dos Membros/diagnóstico
2.
Am J Med Genet A ; 191(10): 2493-2507, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37282829

RESUMO

The oculoauriculofrontonasal syndrome (OAFNS) is a rare condition, with unknown etiology, characterized by the association of frontonasal dysplasia (FND) and oculoauriculovertebral spectrum (OAVS). Main clinical findings include widely spaced eyes, epibulbar dermoid, broad nose, mandibular hypoplasia, and preauricular tags. Here, we describe a case series of 32 Brazilian individuals with OAFNS and review the literature ascertaining individuals presenting phenotypes compatible with the diagnosis of OAFNS, aiming to refine the phenotype. This series emphasizes the phenotypic variability of the OAFNS and highlights the occurrence of rare craniofacial clefts as a part of the phenotype. The ectopic nasal bone, a hallmark of OAFNS, was frequent in our series, reinforcing the clinical diagnosis. The absence of recurrence, consanguinity, chromosomal, and genetic abnormalities reinforces the hypothesis of a nontraditional inheritance model. The phenotypic refinement provided by this series contributes to an investigation regarding the etiology of OAFNS.


Assuntos
Anormalidades do Olho , Síndrome de Goldenhar , Humanos , Orelha Externa/anormalidades , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Coluna Vertebral/anormalidades , Síndrome de Goldenhar/diagnóstico , Fenótipo
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