Article
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome.
American journal of medical genetics. Part A - 1 Sept 2013
Nur Banu Guzel, Bernier Francois P, Oztekin Osman, Kardelen Fırat, Kalay Salih, Parboosingh Jillian S, Mihci Ercan
Abstract excerpt
The acrofacial dysostosis syndromes, which are characterized by malformations of the craniofacial region and limbs, are a clinically heterogeneous group of disorders. Based primarily on the of the pattern of limb defects two major groups have emerged: Nager syndrome with predominantly preaxial malformations plus mandibulofacial dysostosis (severe micrognathia and malar hypoplasia) and Miller syndrome with...
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