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Craniofacial dyssynostosis with cryptorchidism and normal stature

✍ Scribed by Al-Torki, N.A.; Sabry, M.A.; Al-Tawari, A.; Al-Kandari, N.H.; Al-Awadi, S.A.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 22 KB
Volume: 79
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980827)79:1<5::aid-ajmg2>3.0.co;2-p

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✦ Synopsis

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 dysost o s i s s y n d r o m e a n d s u g g e s t s t h a t cryptorchidism represents part of the syndrome profile and that the presence of normal stature does not preclude the diagnosis.

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