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-5-90-b 10.15844/pedneurbriefs-5-12-3 Congenital Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Acrocallosal Syndrome 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 12 1991 01 07 2016 5 12 90 91 Copyright: © 1991 The Author(s) 1991 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. Further delineation of the acrocallosal syndrome

A large highly inbred kindred with 3 definite and 1 possibly affected siblings with acrocallosal syndrome is reported from the Kaplan Hospital, Rehovot and the Emek Central Hospital, Afula, Israel.

 Acrocallosal Syndrome Hypotonia Corpus Callosum

A large highly inbred kindred with 3 definite and 1 possibly affected siblings with acrocallosal syndrome is reported from the Kaplan Hospital, Rehovot and the Emek Central Hospital, Afula, Israel. The family is of Israeli-Arab extraction and the parents are first cousins. The clinical features are divided into three groups: a) diagnostic/essential findings; b) frequent findings; and c) occasional/associated features. The diagnostic findings include macrocephaly, prominent forehead, hypertelorism, epicanthal folds, downslanted palpebral fissures, small nose with wide nasal bridge, Polydactyly and absent/hypoplastic corpus callosum. Frequent findings include ear anomalies, short upper lip, high arched palate, tapered fingers, hypotonia, and seizures. Polysyndactyly is the single most variable main sign, both in degree and in presence, even within the same family. A review of 18 published cases and the present family shows that the main manifestations are cranial facial anomalies and the abnormality of the corpus callosum. Most families have been reported from northeastern Switzerland and the Mediterranean basin. The present family supports a chromosomal recessive inheritance. [1]

COMMENT. The acrocallosal syndrome (Schinzel syndrome) and other syndromes which include callosal agenesis are reviewed in Progress in Pediatric Neurology [2]. At least four distinct syndromes include callosal agenesis as a major component: Aicardi (with infantile spasms, hypsarrythmia, chorioretinal lacunae and coloboma), Schinzel syndrome (with macrocephaly and polysyndactyly), Anderman syndrome (with anterial horn cell disease); and Shapiro syndrome (with recurrent hypothermia).

 Gelman-Kohan Z Antonelli J Ankori-Cohen H Adar H Chemke J Further delineation of the acrocallosal syndrome Eur J Pediatr 1991 Sep 150 11 797 799 10.1007/BF02026715 1659985 Millichap JG Progress in Pediatric Neurology 1991 Chicago and London PNB Publishers 310 312