Non‐dermatological complications and genetic aspects of the Rothmund‐Thomson syndrome

1 January 1985

journal article
case report
Published by Wiley in Clinical Genetics

Vol. 27 (1) , 102-104
https://doi.org/10.1111/j.1399-0004.1985.tb00192.x

Abstract

We report two new cases of Rothmund‐Thomson syndrome which emphasise the less well‐known non‐dermatological complications, namely: hypodontia, soft tissue contractures, proportionate short stature, hypogonadism, anaemia and osteogenic sarcoma. Genetic analysis of these and previously reported pedigrees supports autosomal recessive inheritance.

Keywords

CONTRACTURES
DWARFISM
HYPODONTIA
HYPOGONADISM
OSTEOGENIC SARCOMA
POIKILODERMA CONGENITALE
RECESSIVE GENES

This publication has 3 references indexed in Scilit:

The Dentition in Rothmund’s Syndrome
The Journal of the American Dental Association, 1970
Über das Rothmund-Syndrom
European Journal of Pediatrics, 1955
CONGENITAL CUTANEOUS DYSTROPHY (THOMSON'S TYPE)
British Journal of Dermatology, 1949