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Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome
Author(s) -
Kennedy Shelley J.,
Teebi Ahmad S.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30113
Subject(s) - blepharophimosis , microcephaly , dysostosis , autosomal recessive inheritance , biology , medicine , dermatology , anatomy , genetics , congenital disease , ptosis , surgery , gene
We report on two patients with a unique constellation of anomalies resembling the Nager acrofacial dysostosis syndrome. Clinical manifestations which differentiate their condition from Nager syndrome include: microcephaly, cleft lip and palate, a peculiar beaked nose, blepharophimosis, microtia, symmetrical involvement of the thumbs, and great toes and developmental delay. We postulate that the inheritance is autosomal recessive on the basis of similarly affected male and female sibs. © 2004 Wiley‐Liss, Inc.