title: Rare case of orofaciodigital syndrome type I.
abstract: Orofaciodigital syndrome (OFDS) is a group of congenital anomalies which affects the face, oral structures and digits. There are nine subtypes with different modes of inheritance. OFDS type I is an X-linked dominant trait with lethality in the vast majority of affected males. We report a case of OFDS type I in an Indian girl at the age of seven who had most of the typical features of OFDS type I and nephrocalcinosis.
authors: Department of ENT, CNBC Delhi, Delhi, India. drabhishek_kgmu@yahoo.co.in
authors: Abhishek Bahadur
authors: AB
authors: Singh
authors: Manish
authors: M
authors: Girhotra
authors: Medha
authors: M
authors: Goel
authors: Shilpee
authors: S
authors: Bhatia
mesh_terms: D001707:Biopsy, Needle; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D009958:Orofaciodigital Syndromes / Q000175:diagnosis*; D035583:Rare Diseases; D014057:Tomography, X-Ray Computed; D014059:Tongue / Q000473:pathology