1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-2-52-b 10.15844/pedneurbriefs-2-7-6 Developmental Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Congenital Callosal Defects http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 07 1988 01 08 2016 2 7 52 53 Copyright: © 1988 The Author(s) 1988 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs

A lethal and previously undescribed syndrome in 3 siblings with hypoplasia of the corpus callosum is described from the Istituto Materno-Infantil de Pernambuco, and Laboratorio de Genetica, Universidade Federal de Pernambuco, Recife, PE, Brazil.

 Congenital Callosal Defects Brain Anomalies Schinzel Acrocallosal Syndrome

A lethal and previously undescribed syndrome in 3 siblings with hypoplasia of the corpus callosum is described from the Istituto Materno-Infantil de Pernambuco, and Laboratorio de Genetica, Universidade Federal de Pernambuco, Recife, PE, Brazil. The combination of anomalies, probably inherited as an autosomal recessive trait, included corpus callosum hypoplasia, microcephaly, severe mental retardation, preauricular skin tag, campodactyly (fixed flexion of one or more fingers), growth retardation, and recurrent bronchopneumonia. The children lived for 10, 23 and 32 months. At autopsy in 2 patients, the brain weighed approx 500 gms and showed marked hypoplasia of the corpus callosum, aqueductal stenosis, enlarged 3rd and 4th ventricles, widened cavum septi pellucidi, and diffuse degenerative changes with astrocytosis. The literature on anomalies associated with callosal defects is reviewed. [1]

COMMENT. Congenital callosal defects occur alone or with other brain anomalies, e.g. septum pellucidum defect, hydrocephalus, porencephaly, polymicrogyria, and cerebellar hypoplasia. Mental retardation, seizures, and failure to thrive are commonly associated, but the callosal defect itself may be asymptomatic. At least 4 distinct syndromes include callosal agenesis as a major component: Aicardi (with infantile spasms, hypsarrhythmia, chorioretinal lacunae and coloboma), Schinzel acrocallosal syndrome (with macrocephaly, and Polydactyly), Anderman's syndrome (with anterior horn cell disease), and Shapiro syndrome (with recurrent hypothermia). (See Ped Neur Briefs, March 1988;2:17).

 da-Silva EO Callosal defect, microcephaly, severe mental retardation, and other anomalies in three sibs Am J Med Genet 1988 Apr 29 4 837 43 10.1002/ajmg.1320290413 3400727