Citation
G. Vantrappen et al., Mandibulo-acral dysplasia in a one-year-old boy, GEN COUNSEL, 11(1), 2000, pp. 49-52
Citations number
5
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
GENETIC COUNSELING
ISSN journal
10158146
→ ACNP
Volume
11
Issue
1
Year of publication
2000
Pages
49 - 52
Database
ISI
SICI code
1015-8146(2000)11:1<49:MDIAOB>2.0.ZU;2-4
Abstract
We report on a 1-year-old boy with Mandibuloacral dysplasia, a rare autosom
al recessive syndrome (MIM 248370). He presented at the age of 6 months wit
h short stature, scarce brittle hair and thin skin mainly on the skull with
visible veins. The facial appearance was typical with micrognathia, promin
ent eyes and a thin nose. Hypoplastic terminal phalanges and acroosteolysis
were present. Psychomotor development is normal.