Congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth in four siblings: a new syndrome?

Abstract:

:A syndrome of congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth was observed in four siblings (three women and one man). The pedigree is suggestive of either an autosomal recessive mode of inheritance or the inheritance of a (small) chromosomal translocation. This combination of findings has not been previously reported and is therefore considered to be a new genetic entity.

journal_name

J Am Acad Dermatol

authors

Steijlen PM,Neumann HA,der Kinderen DJ,Smeets DF,van der Kerkhof PC,Happle R

doi

10.1016/s0190-9622(94)70108-3

subject

Has Abstract

pub_date

1994-05-01 00:00:00

pages

893-8

issue

5 Pt 2

eissn

0190-9622

issn

1097-6787

pii

S0190-9622(94)70108-3

journal_volume

30

pub_type

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