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Article

Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report.

American journal of medical genetics. Part A - 15 Jul 2008

Chaabouni Myriam, Maazoul Faouzi, Ben Hamida Amira, Berhouma Moncef, Marrakchi Zahra, Chaabouni Habiba

Abstract excerpt

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, syndactyly between fingers 3 and 4, hypoplastic 3rd, 4th and 5th toes with nail dysplasia, hypospadias with cleft glans, bifid scrotum....

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Identifiers

PMID: 18553510
DOI: 10.1002/ajmg.a.32349

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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