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Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report.
Am J Med Genet A. 2008 Jul 15; 146A(14):1825-7.AJ

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, 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.

Authors+Show Affiliations

Faculté de Medecine Tunis, Laboratory of Human Genetics, Tunis, Tunisia. chaabouni_myriam@yahoo.frNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18553510

Citation

Chaabouni, Myriam, et al. "Autosomal Recessive Acro-fronto-facio-nasal Dysostosis Associated With Genitourinary Anomalies: a Third Case Report." American Journal of Medical Genetics. Part A, vol. 146A, no. 14, 2008, pp. 1825-7.
Chaabouni M, Maazoul F, Ben Hamida A, et al. Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report. Am J Med Genet A. 2008;146A(14):1825-7.
Chaabouni, M., Maazoul, F., Ben Hamida, A., Berhouma, M., Marrakchi, Z., & Chaabouni, H. (2008). Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report. American Journal of Medical Genetics. Part A, 146A(14), 1825-7. https://doi.org/10.1002/ajmg.a.32349
Chaabouni M, et al. Autosomal Recessive Acro-fronto-facio-nasal Dysostosis Associated With Genitourinary Anomalies: a Third Case Report. Am J Med Genet A. 2008 Jul 15;146A(14):1825-7. PubMed PMID: 18553510.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report. AU - Chaabouni,Myriam, AU - Maazoul,Faouzi, AU - Ben Hamida,Amira, AU - Berhouma,Moncef, AU - Marrakchi,Zahra, AU - Chaabouni,Habiba, PY - 2008/6/17/pubmed PY - 2008/8/21/medline PY - 2008/6/17/entrez SP - 1825 EP - 7 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 146A IS - 14 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/18553510/Autosomal_recessive_acro_fronto_facio_nasal_dysostosis_associated_with_genitourinary_anomalies:_a_third_case_report_ L2 - https://doi.org/10.1002/ajmg.a.32349 DB - PRIME DP - Unbound Medicine ER -