Schinzel acrocallosal syndrome.
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.
Gulati
Sheffali
S
Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Menon
Shaji
S
Kabra
Madhulika
M
Kalra
Veena
V
D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D006801:Humans; D007223:Infant; D008297:Male; D017689:Polydactyly / Q000235:genetics; D012640:Seizures / Q000209:etiology; D013577:Syndrome