Nc. Nevin et al., ANONYCHIA AND ABSENCE HYPOPLASIA OF DISTAL PHALANGES (COOKS-SYNDROME)- REPORT OF A 2ND FAMILY, Journal of Medical Genetics, 32(8), 1995, pp. 638-641
We describe a second family with four affected members in three succes
sive generations with a rare nail dysplasia syndrome. The syndrome, wh
ich was first reported by Cooks et al in 1985, is characterised by bil
ateral 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, the
re is absence/hypoplasia of the distal phalanges of the hands and feet
. Our family confirms this syndrome as a distinct entity with autosoma
l dominant inheritance.