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

✍ Scribed by Courtens, W.; Vamos, E.; Christophe, C.; Schinzel, A.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 239 KB
Volume: 69
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970303)69:1<17::aid-ajmg4>3.0.co;2-q

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✦ Synopsis

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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