Literature DB >> 9738859

Craniofacial dyssynostosis with cryptorchidism and normal stature.

N A Al-Torki1, M A Sabry, A Al-Tawari, N H Al-Kandari, S A Al-Awadi.   

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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Year:  1998        PMID: 9738859     DOI: 10.1002/(sici)1096-8628(19980827)79:1<5::aid-ajmg2>3.0.co;2-p

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  Bilambdoid and sagittal synostosis: Report of 39 cases.

Authors:  Nathalie Chivoret; Eric Arnaud; Kim Giraudat; Frazer O'Brien; Leslie Pamphile; Philippe Meyer; Dominique Renier; C Collet; Federico Di Rocco
Journal:  Surg Neurol Int       Date:  2018-10-11
  1 in total

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