Nager type acrofacial dysostosis is a rare genetic disorder which is seen with the deformities of craniofacial region and extremities,which may accompany with sistemic disorders. To date approximately 80 cases have been reported. Our case had prominent micrognathia, malar and maxillary hypoplasia, cleft palate, low set ears, antevert nares, hearing loss in the left ear, the absence of thumb and radius, short arm, hypoplasia of the tibia and ankle deformity. The patient was died because of the malnutrition due to feeding difficulties and infection at the sixth month. We herein present this case to emphasize the distinguishing features of this syndrome from other syndromes of craniofacial (mandibulofacial) and acrofacial dysostosis as our case had a different clinical presentation since lower extremity anomalies are rarely seen in Nager type acrofacial dysostosis
Alan : Sağlık Bilimleri
Dergi Türü : Uluslararası
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