Spectrum of the acrocallosal syndrome.
Acrocallosal syndrome (ACS) is an autosomal recessive condition, characterized by agenesis of the corpus callosum, pre- and postaxial polydactyly, minor craniofacial anomalies, and, in most patients, severe psychomotor retardation. We here report on three patients with ACS demonstrating a spectrum from mild to severe involvement. Two patients had only mild to moderate mental retardation at the age of 2(1/2) and 4 years, respectively, with surprisingly good speech development. The third patient was severely affected and died at age 7 days because of persistent apnea. All three patients had agenesis of the corpus callosum, and large intracranial cysts, which in the third case was confirmed as a large arachnoid cyst at autopsy. Cranial cysts were also seen in 10/34 published cases of ACS. Thus, intracerebral cysts are a common finding in ACS and may serve in differentiating ACS from Greig cephalopolysyndactyly syndrome.
Koenig
Rainer
R
Department of Human Genetics, Johann Wolfgang Goethe University, Frankfurt, Germany. r.koenig@em.uni-frankfurt.de
Bach
Alexia
A
Woelki
Ulrike
U
Grzeschik
Karl-Heinz
KH
Fuchs
Sigrun
S
D000015:Abnormalities, Multiple / Q000473:pathology / Q000503:physiopathology; D061085:Agenesis of Corpus Callosum; D016080:Arachnoid Cysts; D002675:Child, Preschool; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D019465:Craniofacial Abnormalities / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D010641:Phenotype; D017689:Polydactyly; D011596:Psychomotor Disorders; D011859:Radiography; D013577:Syndrome