RESUMO
BACKGROUND: The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations. MATERIAL AND METHODS: To characterize the pattern of inheritance and clinical features, 29 family members were evaluated by dermatologic, ophthalmologic, otorhinolaryngologic and orofacial examination. Molecular analysis of the PAX3 gene was performed. RESULTS: The pedigree of the family, including the last four generations, was constructed and revealed non-consanguineous marriages. Out of 29 descendants, 16 family members showed features of WS1, with 9 members showing two major criteria indicative of WS1. Five patients showed white forelock and iris hypopigmentation, and four showed dystopia canthorum and iris hypopigmentation. Two patients had hearing loss. Dental abnormalities were identified in three family members, including dental agenesis, conical teeth and taurodontism. Sequencing analysis failed to identify mutations in the PAX3 gene. CONCLUSIONS: These results confirm that WS1 was transmitted in this family in an autosomal dominant pattern with variable expressivity and high penetrance. The presence of dental manifestations, especially tooth agenesis and conical teeth which resulted in considerable aesthetic impact on affected individuals was a major clinical feature. Clinical relevance: This article reveals the presence of well-defined dental changes associated with WS1 and tries to establish a possible association between these two entities showing a new spectrum of WS1
Assuntos
Humanos , Síndrome de Waardenburg/genética , Estudos de Associação Genética/métodos , Fenótipo , Predisposição Genética para Doença , Marcadores Genéticos , Mutação , Perda Auditiva/genéticaRESUMO
El término neurocristopatía describe un grupo de procesos que derivan de un defecto en el crecimiento, diferenciación y/o migración de las células de la cresta neural. En este sentido, la enfermedad de Hirschsprung es consecuencia de un defecto en la migración de las células de la cresta neural hacia el intestino distal y por lo tanto se considera que forma parte del concepto de neurocristopatía. Este concepto abarca múltiples y diversos desórdenes que pueden presentarse aislados o asociarse formando síndromes. Presentamos 4 casos de enfermedad de Hirschsprung asociado a otras neurocristopatías: 1 síndrome de Waardenburg, 1 síndrome de hipoventilación central congénita o curso Ondine, 1 ganglioneuroblastoma y 1 paciente que asociaba una hipoacusianeurosensorial bilateral (AU)
The term Neurocristopathy describes a group of conditions caused by aberrations in growth, migration and differentiation of neural crest cells. In this sense, Hirschsprung´s disease is a consequence of a failure in neural crest cells migration to distal intestine and in consequence it is considered to be part of neurocristopathy concept. This concept includes several diseases that can present either alone or in combination as a syndrome. We present 4 patients suffering Hirschsprung´s disease associated with others neurocristopathies: 1 Waardenburg´s syndrome, 1 congenital central hypoventilation syndrome or Ondine´s curse,1 ganglioneuroblastoma and 1 patient with bilateral sensory deafness (AU)
Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Doença de Hirschsprung/complicações , Crista Neural/anormalidades , Síndrome de Waardenburg/complicações , Apneia do Sono Tipo Central/complicações , Apneia do Sono Tipo Central/congênito , Ganglioneuroblastoma/complicações , Perda Auditiva Neurossensorial/complicações , Obstrução Intestinal/complicaçõesRESUMO
No disponible
Assuntos
Masculino , Criança , Humanos , Recém-Nascido de Baixo Peso/fisiologia , Obstrução Intestinal/complicações , Obstrução Intestinal/diagnóstico , Transtornos da Pigmentação/complicações , Transtornos da Pigmentação/diagnóstico , Manometria/métodos , Índice de Apgar , Síndrome de Waardenburg/complicações , Síndrome de Waardenburg/diagnóstico , Transtornos da Pigmentação/epidemiologia , Transtornos da Pigmentação/fisiopatologia , Transtornos da Pigmentação/terapia , Biópsia/métodos , Hipopigmentação/complicaçõesRESUMO
El Síndrome de Waardenburg es un cuadro con herencia autosómica dominante y expresión clínica variable, poco frecuente en la población general, pero que en algunas series se ha involucrado en hasta un 2 por ciento de las hipoacusias congénitas severas. En estos pacientes se aprecian, además de la hipoacusia, diversos rasgos dismórficos, distinguiéndose cuatro tipos del síndrome, en función de la presencia o ausencia de distopia cantorum, malformaciones esqueléticas y enfermedad de Hirchsprung. Se han descrito diversas alteraciones genéticas frecuentes en cada uno de los tipos de esta enfermedad. Presentamos dos familias, con un total de 21 pacientes, siete de ellos en edad pediátrica afectos de esta enfermedad. En conclusión, hay que destacar la importancia del conocimiento de los distintos rasgos dismórficos de este síndrome, que nos pueden llevar a la detección precoz de una posible hipoacusia de percepción que permita la instauración de terapias enfocadas a una adquisición del lenguaje lo más óptima posible en estos pacientes (AU)
