Clinical and radiological findings in Schinzel-Giedion syndrome.
The absence of a definitive genetic test for the autosomal recessive condition Schinzel-Giedion syndrome is a significant handicap to the recognition of this disorder. Radiological features have been an important aspect of many of the published cases. In a series of six cases, we now establish a consistency among many of the radiological features in affected cases which will be an important diagnostic aid in identifying future cases. This is confirmed by reference to an extensive review of previously published instances of the syndrome. Moreover, the clinical data, including previously unpublished photographs, which we detail from our patients will assist in enhanced diagnosis in the future.
Al-Mudaffer
Mudaffer
M
Our Lady's Hospital for Sick Children, Crumlin, Dublin 12, Ireland.
Oley
Christine
C
Price
Sue
S
Hayes
Ian
I
Stewart
Alison
A
Hall
Christine M
CM
Reardon
William
W
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000000981:diagnostic imaging*; D019465:Craniofacial Abnormalities / Q000150:complications / Q000175:diagnosis / Q000000981:diagnostic imaging*; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D006983:Hypertrichosis / Q000209:etiology; D007223:Infant; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging / Q000209:etiology; D008297:Male; D009264:Nails, Malformed / Q000209:etiology; D010384:Pelvic Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome