Autosomal recessive malformation syndrome with minor manifestation in the heterozygotes: a preliminary report of a possible new syndrome.
Am J Med Genet
; 41(2): 141-52, 1991 Nov 01.
Article
en En
| MEDLINE
| ID: mdl-1785624
ABSTRACT
We describe 3 patients with a new malformation syndrome in 2 sibships in a large kindred from Bahia, Brazil. The parents in both sibships are consanguineous. The syndrome is characterized by malformations of the face, ears, hands and feet, plus mixed deafness and pseudopapilledema. Fifty-four relatives were examined clinically and scored by the number of anomalies. A control sample of 54 individuals was equally examined. The distribution of the number of anomalies per individual (score) is bimodal in the relatives of the patients but unimodal in the control individuals. Detection of heterozygotes was based on the score distribution.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
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Deformidades Congénitas del Pie
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Deformidades Congénitas de la Mano
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Cara
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Pérdida Auditiva
Límite:
Adult
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Child
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Female
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Humans
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Male
Idioma:
En
Revista:
Am J Med Genet
Año:
1991
Tipo del documento:
Article
País de afiliación:
Brasil