SCHINZEL-GIEDION SYNDROME - FURTHER DELINEATION OF THE PHENOTYPE

Authors
ELLIOTT AM MEAGHERVILLEMURE K OUDJHANE K DERKALOUSTIAN VM
Citation
Am. Elliott et al., SCHINZEL-GIEDION SYNDROME - FURTHER DELINEATION OF THE PHENOTYPE, Clinical dysmorphology, 5(2), 1996, pp. 135-142
Citations number
18
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical dysmorphology → ACNP
ISSN journal
09628827
Volume
5
Issue
2
Year of publication
1996
Pages
135 - 142
Database
ISI
SICI code
0962-8827(1996)5:2<135:SS-FDO>2.0.ZU;2-8
Abstract
We describe a male infant with findings typical of Schinzel-Giedion sy ndrome. Characteristic features include: midface retraction, widely pa tent fontanelles, hirsutism, choanal stenosis, hypospadias with chorda e, club feet and broad ribs. The patient suffered from seizures and di ed at 14 months of age of fulminant bronchopneumonia. Pathological exa mination revealed steatosis in the liver as well as lipid vacuolizatio n of the zona fasciculata of the adrenals.