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Acrocallosal syndrome in Algerian boy born to consanguineous parents: Review of the literature and further delineation of the syndrome


Courtens, W; Vamos, E; Christophe, C; Schinzel, Albert (1997). Acrocallosal syndrome in Algerian boy born to consanguineous parents: Review of the literature and further delineation of the syndrome. American Journal of Medical Genetics, 69(1):17-22.

Abstract

We present a 17-month-old boy with the acrocallosal syndrome. He was born to consanguineous parents. Abnormal findings included agenesis of the corpus callosum, a ventricular septal defect (VSD), postaxial polydactyly of fingers, cleft soft palate, intestinal malrotation, large anterior fontanelle, prominent forehead, hypertelorism, epicanthic folds, short nose and mandible and preauricular skin tags, mixed hearing loss, laryngomalacia, and growth and severe motor and mental retardation. A review of previous reports on the acrocallosal syndrome shows considerable clinical variability; minimal diagnostic criteria are proposed. A developmental field defect with disturbance of midline development is suggested.

Abstract

We present a 17-month-old boy with the acrocallosal syndrome. He was born to consanguineous parents. Abnormal findings included agenesis of the corpus callosum, a ventricular septal defect (VSD), postaxial polydactyly of fingers, cleft soft palate, intestinal malrotation, large anterior fontanelle, prominent forehead, hypertelorism, epicanthic folds, short nose and mandible and preauricular skin tags, mixed hearing loss, laryngomalacia, and growth and severe motor and mental retardation. A review of previous reports on the acrocallosal syndrome shows considerable clinical variability; minimal diagnostic criteria are proposed. A developmental field defect with disturbance of midline development is suggested.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), acrocallosal syndrome, agenesis of corpus callosum, polydactyly, developmental field defect
Language:English
Date:3 March 1997
Deposited On:19 Jan 2023 15:23
Last Modified:28 Apr 2024 01:45
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0148-7299
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/(sici)1096-8628(19970303)69:1<17::aid-ajmg4>3.0.co;2-q