Schinzel-Giedion syndrome.

Abstract:

:We describe a female infant with the Schinzel-Giedion syndrome. Features present in 11 patients include coarse face, midface retraction, urogenital anomalies, poor skull vault mineralisation and variable anomalies of the long bones. Outcome is poor and mental retardation is the rule among survivors. Prenatal diagnosis seems unreliable. Facial features change dramatically with age and diagnosis is likely to be easily missed beyond the neonatal period. No metabolic defect has been detected. Inheritance is probably autosomal recessive.

journal_name

Eur J Pediatr

authors

Verloes A,Moës D,Palumbo L,Elmer C,François A,Bricteux G

doi

10.1007/BF01955902

subject

Has Abstract

pub_date

1993-05-01 00:00:00

pages

421-3

issue

5

eissn

0340-6199

issn

1432-1076

journal_volume

152

pub_type

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