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Medical Science Monitor Basic Research


Demirhan sydrome, a new sydrome: Fibular agenesis, cleft palate, absence of multiple permanent teeth and labial hypoplasia

Osman Demirhan, Neslihan Önenli Mungan, Serdar Toroğlu, Figen Binokay, Deniz Taştemir, Hüseyin A. Solğun

Am J Case Rep 2008; 9:359-363

ID: 867883

Available online: 2008-08-29

Published: 2008-08-29

Background: There are some syndromes described in the literature with agenesis of fibulae and tibia, but to the best of our knowledge, our case is the first one defined with f bular agenesis, and tibial bowing without involvement of femur or upper extremity deformities and teeth abnormalities.
Case Report: We report a twelve years old girl, who had severe growth retardation, major lower extremity abnormalities, torticollis, flat face, hypertelorism, thin upper lip, displaced teeth, cleft palate, and labial hypoplasia. Chromosome analysis was performed. Her karyotype was normal female (46,XX) and no chromosomal abnormality was detected.
Conclusions: The clinical findings of this case is not in accordance with any known syndrome. It is a new syndrome according to our opinion.

Keywords: Fibular agenesis, Cleft Palate, Absence of multiple permanent teeth, Labial hypoplasia, Cytogenetics