Literature DB >> 10826622

Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism.

K Devriendt1, K Keymolen, L Roelen, G Van Goethem, J Meireleire, J P Fryns.   

Abstract

We present an adult female patient with a so far unreported syndrome of severe short stature, severe mental retardation, facial dysmorphism and hyperphalangy of the index fingers. Parental consanguinity suggests an autosomal recessive inheritance.

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Year:  2000        PMID: 10826622     DOI: 10.1097/00019605-200009020-00007

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


  1 in total

1.  Congenital Pseudarthrosis of Index Metacarpal Bone Treated with Distraction Osteogenesis Followed by Autologous Grafting.

Authors:  Aziz Atik; Selahattin Ozyurek; Gokhan Meric; Serdar Sargin; Ozkan Kose; Ali Engin Ulusal
Journal:  J Hand Microsurg       Date:  2014-03-27
  1 in total

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