Anonychia and absence/hypoplasia of distal phalanges (Cooks syndrome): report of a second family.
نویسندگان
چکیده
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.
منابع مشابه
Congenital anonychia affecting both little fingers - a “forme fruste” of cooks syndrome? A case report
Cooks syndrome is a hereditary disorder which is characterized by bilateral nail hypoplasia on the thumb, index and middle fingers, absence of fingernails (anonychia) on the ring finger and little finger, lengthening of the thumbs, and bulbousness of the fingers. Congenital anonychia affecting both the little fingers, occurring as an isolated developmental defect is a very uncommon phenomenon. ...
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عنوان ژورنال:
- Journal of medical genetics
دوره 32 8 شماره
صفحات -
تاریخ انتشار 1995