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-2-17-b 10.15844/pedneurbriefs-2-3-2 Congenital Malformations Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Acrocallosal Syndrome (Schinzel 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 03 1988 01 08 2016 2 3 17 18 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. Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?

The acrocallosal syndrome, first described by Schinzel and characterized by dysmorphic features, macrocephaly, Polydactyly, mental retardation, and agenesis of the corpus callosum, is reported in two unrelated boys with consanguineous parents from the Centre de Génétique Médicale, Service de Pediatrie Générale and Radiologie, Hôpital d'Enfants de la Timone, Marseille, France.

 Acrocallosal Syndrome Dysmorphic Features Schinzel Syndrome

The acrocallosal syndrome, first described by Schinzel [1] and characterized by dysmorphic features, macrocephaly, Polydactyly, mental retardation, and agenesis of the corpus callosum, is reported in two unrelated boys with consanguineous parents from the Centre de Génétique Médicale, Service de Pediatrie Générale and Radiologie, Hôpital d'Enfants de la Timone, Marseille, France. An autosomal recessive mode of inheritance is suggested and echographic survey of further pregnancies is advised. Clinical manifestations included macrocephaly, bulging forehead, antimongoloid slant of eyes, broad short nose, posteriorly rotated ears, herniae, Polydactyly, cardiac defect, mental retardation and corpus callosal agenesis. [2]

COMMENT. Only 12 cases of the syndrome have been reported. Schinzel, who described the syndrome in 1979 and has at least 5 publications on the subject, deserves the eponym.

 Schinzel A Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome? Helv Paediatr Acta 1979 May 34 2 141 6 457430 Philip N Apicella N Lassman I Ayme S Mattei JF Giraud F The acrocallosal syndrome Eur J Pediatr 1988 Feb 147 2 206 8 10.1007/BF00442226 3366141