Clinical and radiological findings in Schinzel-Giedion syndrome.
Eur J Pediatr
; 167(12): 1399-407, 2008 Dec.
Article
in En
| MEDLINE
| ID: mdl-18461363
ABSTRACT
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 Moreover, the clinical data, including previously unpublished photographs, which we detail from our patients will assist in enhanced diagnosis in the future.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
/
Craniofacial Abnormalities
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limits:
Female
/
Humans
/
Infant
/
Male
/
Newborn
Language:
En
Journal:
Eur J Pediatr
Year:
2008
Type:
Article
Affiliation country:
Ireland