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Abstract #21612 Published in IGR 10-3
Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: A third case report
Chaabouni M; Maazoul F; Hamida AB; Berhouma M; Marrakchi Z; Chaabouni HAmerican Journal of Medical Genetics, Part A 2008; 146: 1825-1827
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. Brain MRI showed right frontal encephalocele with anomalies of the cortical gyration without any corpus callosum abnormality. Normal chromosomes and parents' consanguinity are suggestive of autosomal recessive inheritance. Facial midline anomalies associated with limb and genitourinary anomalies is very uncommon. We present the third case reported in the literature.
Dr. M. Chaabouni, Faculte de Medecine Tunis, Laboratoire de Genetique Humaine, 2 Rue Zouheir Essafi Bab Saadoun, Tunis 1007, Tunisia. Chaabouni_myriam@yahoo.fr
Classification:
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)