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Gene: a computerized database of monogenic dysmorphic syndromes with high mortality in the neonatal period
Rev. Hosp. Säo Paulo Esc. Paul. Med ; 6(3/4): 51-63, July-Dec. 1995. tab
Artículo en Inglés | LILACS | ID: lil-180105
RESUMO
We selected 114 dysmorphic syndromes, and based on published data, have elaborated a general picture, including characteristic clinical, radiological and pathological signs. This database was prepared to run on personal computers. lt is possible to browse or search for the syndromes, features and references, among other characteristics.The dysmorphic syndromes were divided into two different sets, according to their mode of inheritance. The first comprises 78 monogenic syndromes with defined inheritance, while the second comprises 36 presently undefined syndromes with suggested monogenic inheritance. Among the first group, 53 have autosomal recessive inheritance. Although in almost half of the syndromes death is mostly perinatal, longer survival can be found. The organic systems involved among the 114 syndromes studied were as follows Osteoarticular 81 per cent, cardiovascular 54 per cent, genitourinary 47 per cent, central nervous system 42 per cent, respiratory 41 per cent and gastrointestinal 37 per cent. Abnormalities of the osteoarticular system was the main cause of death in the majority of the syndromes.
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Índice: LILACS (Américas) Asunto principal: Anomalías Múltiples / Sistemas de Información / Mortalidad Infantil / Enfermedades Genéticas Congénitas Límite: Humanos / Recién Nacido Idioma: Inglés Revista: Rev. Hosp. Säo Paulo Esc. Paul. Med Asunto de la revista: Medicina Año: 1995 Tipo del documento: Artículo

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Índice: LILACS (Américas) Asunto principal: Anomalías Múltiples / Sistemas de Información / Mortalidad Infantil / Enfermedades Genéticas Congénitas Límite: Humanos / Recién Nacido Idioma: Inglés Revista: Rev. Hosp. Säo Paulo Esc. Paul. Med Asunto de la revista: Medicina Año: 1995 Tipo del documento: Artículo