A case of cardio‐facio‐cutaneous syndrome

1 August 1989

journal article
research article
Published by Wiley in American Journal of Medical Genetics

Vol. 33 (4) , 474-475
https://doi.org/10.1002/ajmg.1320330411

Abstract

A 6‐yr‐old girl is described who presented with failure to thrive at age 3 months and was found to have mental retardation, growth retardation, disproportionately large head, distinctive face, abnormal hair, eczema, heart defect, splenomegaly, and multiple hemangiomata. She is thought to have the cardio‐facio‐cutaneous syndrome and to be the first such case identified in Britain.

Keywords

GROWTH AND MOTOR DELAY
ECZEMA
ICHTHYOSIS
MULTIPLE CONGENITAL ANOMALIES/MENTAL RETARDATION (MCA/MR) SYNDROME
CONGENITAL HEART DEFECT
ECTODERMAL DYSPLASIA
CFC SYNDROME

This publication has 1 reference indexed in Scilit:

New multiple congenital anomalies/mental retardation syndrome with cardio‐facio‐cutaneous involvement—the CFC syndrome
American Journal of Medical Genetics, 1986