Literature DB >> 9134290

A syndrome of brachyphalangy, polydactyly and absent tibiae.

M Baraitser1, F Stewart, R M Winter, C M Hall, S Herman, N C Nevin.   

Abstract

We report two unrelated children with a new syndrome consisting of polydactyly and tibial aplasia in the lower limbs. severe brachyphalangy in the hands, malformed ears and a micropenis.

Entities:  

Mesh：

Year:  1997        PMID： 9134290

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  3 in total

1.  Total anomalous pulmonary venous connection and a constellation of craniofacial, skeletal, and urogenital anomalies in a newborn and similar features in his 36-year-old father.

Authors:  D M Pierson; E M Taboada; G K Lofland; M L Begleiter; G S Smith; F Hall; M G Butler
Journal:  Clin Dysmorphol       Date:  2001-04       Impact factor: 0.816

Review 2.  Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.

Authors:  Yousef Shafeghati; Kimia Kahrizi; Hossein Najmabadi; Andreas Walter Kuss; Hans-Hilger Ropers; Andreas Tzschach
Journal:  Eur J Pediatr       Date:  2010-07-27       Impact factor: 3.183

3.  A patient with unilateral tibial aplasia and accessory scrotum: a pure coincidence or nonfortuitous association?

Authors:  Zoran Gucev; Marco Castori; Velibor Tasic; Nada Popjordanova; Arijeta Hasani
Journal:  Case Rep Med       Date:  2010-02-03
  3 in total

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