[Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial].
Treacher Collins syndrome was first mentioned by Thompson in 1847, and described by Treacher Collins in 1900, then it was called mandibulo-facial dysostosis and well defined by Franceschetti in 1949. It is a very rare affection occurring lin 50.000 live births, which includes facial and auricular anomalies leading to functional, morphological and psychological difficulties due to related handicaps. Treacher Collins syndrome is inherited as autosomal dominant pattern with a variable expressivity and incomplete penetrance of "TCOF1" gene localized at 5q31.3q32. Today the gene is well identified and several mutations have been reported. In this paper we report the case of 4 Tunisian unrelated girls with Treacher Collins syndrome. One of them was born from an affected father. Clinical diagnostic was performed between age 12 days and 2 years demonstrating the large dysmorphic expression. Main clinical features were present in all reported cases. Family at risk might have genetic counselling and probably prenatal diagnostic in some situations. Out of our observations, we gave genetic counselling and proposed ultrasound prenatal diagnosis for two families without molecular study.
Chaabouni
Myriam
M
Service des maladies congénitales et héréditaires, hôpital Charles Nicolle, Tunis.
Fersi
Mounir
M
Belghith
Neila
N
Maazoul
Faouzi
F
M'rad
Ridha
R
Ben Jemaa
Lamia
L
Gandoura
Najoua
N
Chaabouni
Habiba
H
D002675:Child, Preschool; D003638:Deafness / Q000473:pathology; D004432:Ear, Middle / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008342:Mandibulofacial Dysostosis / Q000235:genetics / Q000473:pathology*