Balkan Journal of Medical Genetics

MISDIAGNOSIS OF TRACHER-COLLINS SYNDROME INITIALLY ATTRIBUTED TO DRUG TERATOGENICITY: A MOROCCAN CASE REPORT
Lamzouri A, EL Rherbi A, Ratbi I, Laarabi FZ, Chahboune R, Elalaoui SC, Hamdaoui H, Bencheikh RS, Sefiani
*Corresponding Author: Afaf Lamzouri (MD, Ass. Prof.): Department of Medical Genetics and Oncogenetics, Mohammed VI University Hospital, Faculty of Medicine and Pharmacy of Tangier, BP 365 km 15 Gzenaya Tangier, Morocco. Fax: 05.39.39.21.46. Phone number: 00 212 6 10 77 79 59. Email: lamzouriafaf@hotmail.com / lamzouriafaf82@gmail.com / a.lamzouri@uae.ac.ma
page: 69

INTRODUCTION

Treacher Collins syndrome (TCS, OMIM # 154500), also known as mandibulofacial dysostosis and France- schetti-Zwahlen-Klein syndrome, is a rare congenital dis- order of craniofacial morphogenesis with an estimated prevalence of 1/50000 births [1]. Most TCS cases are in- herited in an autosomal dominant manner. Typical cases of TCS are characterized by four major clinical manifesta- tions, hypoplasia of the zygomatic bones and mandible, external ear abnormalities, lower eyelid abnormalities, and family history consistent with autosomal dominant inheritance. The four genes involved in TCS are TCOF1, POLR1B, POLR1C, and POLR1D. In this report, we present the case of a 7-year-old Mo roccan boy exhibiting characteristic traits of TCS. Un- fortunately, an initial misdiagnosis, which erroneously attributed the child’s condition to the mother’s medication, led to profound psychological and social challenges for the family. Subsequent molecular genetic testing definitively confirmed the presence of TCS.

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