Anonychia and absence/hypoplasia of distal phalanges (Cooks syndrome): report of a second family.

AUTOR(ES)

Nevin, N C

RESUMO

We describe a second family with four affected members in three successive generations with a rare nail dysplasia syndrome. The syndrome, which was first reported by Cooks et al in 1985, is characterised by bilateral nail hypoplasia of digits 1-3, with absence of nails of digits 4-5 of the hands, and total absence of all toe nails. In addition, there is absence/hypoplasia of the distal phalanges of the hands and feet. Our family confirms this syndrome as a distinct entity with autosomal dominant inheritance.

Documentos Relacionados

• Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder.
• Acromegaloid facial appearance (AFA) syndrome: report of a second family.
• Waardenburg's syndrome. Report of a family.
• Incontinentia pigmenti (Bloch-Sulzberger syndrome): seven case reports from one family.
• Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients