Schinzel acrocallosal syndrome.
Indian J Pediatr
;
2003 Feb; 70(2): 173-6
Article
in English
| IMSEAR
| ID: sea-78922
ABSTRACT
Acrocallosal syndrome (ACLS), also known by its synonyms Schinzel Acrocallosal syndrome and Hallux duplication, Postaxial polydactyly and absence of corpus callosum, is a rare genetic disorder that is apparent at birth. Although autosomal recessive inheritence has been suggested, ACLS often appears to occur sporadically. Typical characteristics of ACLS are hypoplasia/agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformations and growth retardation. It has not been reported from India so far. This article reports a 5-month-old boy with combination of abnormalities consistent with acrocallosal syndrome.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Seizures
/
Syndrome
/
Abnormalities, Multiple
/
Humans
/
Male
/
Polydactyly
/
Corpus Callosum
/
Infant
Language:
English
Journal:
Indian J Pediatr
Year:
2003
Type:
Article
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