Total: 1 |
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PMID (PMCID) | ||
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23913624 |
FEMALE | Infant, Newborn |
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome. | ||
Nur BG, Bernier FP, Oztekin O, Kardelen F, Kalay S, Parboosingh JS, Mihci E. Am J Med Genet A. 2013;161A(9):2311-5. |
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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 postaxial malformations plus mandibulofacial dysostosis. |