A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges

R G Cooks; M Hertz; M B Katznelson; R M Goodman

doi:10.1111/j.1399-0004.1985.tb00189.x

A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges

Clin Genet. 1985 Jan;27(1):85-91. doi: 10.1111/j.1399-0004.1985.tb00189.x.

Authors

R G Cooks, M Hertz, M B Katznelson, R M Goodman

PMID: 3978841
DOI: 10.1111/j.1399-0004.1985.tb00189.x

Abstract

A family in which two generations have a rare and previously undescribed form of nail dysplasia with bone abnormalities is reported. This disorder is characterized by onychodystrophy, anonychia, brachydactyly of the fifth digit of the hands, and digitalization of the thumbs, with absence and/or hypoplasia of the distal phalanges of the hands and feet. The probable mode of transmission is autosomal dominant.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Adolescent
Bone and Bones / abnormalities*
Foot Deformities, Congenital
Hand Deformities, Congenital
Humans
Male
Nails, Malformed / genetics*
Pedigree