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Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia
Author(s) -
Bernardi Pricila,
Graziadio Carla,
Rosa Rafael F.M.,
Dall'Agnol Lisiane,
Zen Paulo R.G.,
Paskulin Giorgio A.
Publication year - 2009
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.32943
Subject(s) - polydactyly , aplasia , hypoplasia , medicine , anatomy , agenesis , renal agenesis , imperforate anus , surgery , kidney , endocrinology
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia is a rare autosomal dominant disorder. The present report represents the ninth reported case and only the second case involving a female. She had a characteristic pattern of limb anomalies including agenesis of the tibiae and bilateral preaxial polydactyly of the feet, associated with genital hypoplasia. In addition our patient had wormian bones, a lacrimal sac fistula, an ectopic kidney and an anteriorly placed anus, which are findings not previously described in this condition. © 2009 Wiley‐Liss, Inc.