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Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies

✍ Scribed by Richieri-Costa, A. ;Montagnoli, L. ;Kamiya, T. Y.


Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
413 KB
Volume
33
Category
Article
ISSN
0148-7299

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Autosomal recessive acro-fronto-facio-na
✍ Myriam Chaabouni; Faouzi Maazoul; Amira Ben Hamida; Moncef Berhouma; Zahra Marra πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 87 KB πŸ‘ 1 views

## Abstract We report on a 22‐day‐old Tunisian boy born to consanguineous (first‐cousin) parents (F = 1/16). The patient presents wide forehead with frontal encephalocele, wide anterior fontanel, marked hypertelorism, coloboma of the upper lids, proptosis, congenital glaucoma, broad nose, syndactyl