Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects.
The acrocallosal syndrome (ACS) is a rare malformation syndrome characterized by a distinct pattern of craniofacial, brain and limb anomalies. It was first described by Schinzel in 1979 and followed by 25 other cases reported in the literature. Neurodevelopmental aspects include hypotonia of prenatal onset, seizures and moderate to severe mental retardation. The condition is probably of autosomal recessive inheritance but is closely resembles the Greig cephalopolysyndactyly syndrome (GCPS), an autosomal dominantly inherited disorder mapped to the short arm of chromosome seven. We reviewed the literature for aspects of associated cystic malformations in addition to agenesis of the corpus callosum and report on another patient with ACS. Prognosis is dependent on the degree of hypotonia and early onset of epilepsy rather than the degree of craniofacial and limb malformations.
Thyen
U
U
Klinik für Pädiatrie, Medizinische Universität zu Lübeck, Germany.
Aksu
F
F
Bartsch
O
O
Herb
E
E
D000015:Abnormalities, Multiple / Q000175:diagnosis; D061085:Agenesis of Corpus Callosum; D001794:Blood Pressure; D001921:Brain / Q000002:abnormalities*; D001927:Brain Diseases / Q000175:diagnosis; D003560:Cysts / Q000175:diagnosis; D004827:Epilepsy / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis; D017880:Limb Deformities, Congenital; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome