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Case Reports
. 1998 Aug 27;79(1):5-7.
doi: 10.1002/(sici)1096-8628(19980827)79:1<5::aid-ajmg2>3.0.co;2-p.

Craniofacial dyssynostosis with cryptorchidism and normal stature

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Case Reports

Craniofacial dyssynostosis with cryptorchidism and normal stature

N A Al-Torki et al. Am J Med Genet. .

Abstract

We describe an Arab boy with craniofacial dyssynostosis. He presented with facial anomalies, mental retardation, epilepsy, hypotonia, and agenesis of the corpus callosum. This report reemphasises the previously reported traits of craniofacial dysostosis syndrome and suggests that cryptorchidism represents part of the syndrome profile and that the presence of normal stature does not preclude the diagnosis.

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