1/2. 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.- - - - - - - - - - ranking = 1keywords = acrocallosal syndrome, acrocallosal (Clic here for more details about this article) |
2/2. Schinzel acrocallosal syndrome: a variant example of the Greig syndrome?A 5-month-old male is reported with clinical and radiological findings identical to those present in the Schinzel acrocallosal syndrome. The similarity with the Greig syndrome is discussed and the question is raised whether both syndromes are variant examples of the same autosomal dominant condition.- - - - - - - - - - ranking = 1.25keywords = acrocallosal syndrome, acrocallosal (Clic here for more details about this article) |