A case with oromandibular-limb hypogenesis spectrum

Abstract

A four- month-old boy whose parents have no consanguineous marriage was diagnosed as having or-omandibular-limb hypogenesis. Clinical examination of the patient showed microtia, retromicrognathia, hypoglossia, absence of the second, third, fourth fingers at the right hand and associated metacarpals as well as absence of all toes and metatarsals at right foot. Since the prenatal history of the patient has shown that the mother had used medications during the first trimester of her pregnancy, the case was considered to be rare and reported.

Özet

Anne-babası akraba olmayan dört aylık erkek çocuğun mikroti, retromikrognati, hipoglossi gibi bulgularına ilaveten' sağ elinde ikinci, üçüncü, dördüncü parmak ve metakarplar, sağ ayağında da tüm parmak ve metatarslar yoktu. Bu bulgular nedeniyle oromandibuler-limb hipogehezis tanısı konuldu. Prenatal öyküden ilk trimesterde ilaç kullanımı olduğu öğrenildi ve olgu nadir görülmesi nedeniyle sunuldu.