Literature DB >> 7735504

Specific acromesomelia with facial and renal anomalies: a new syndrome.

R A Pfeiffer1, H Hirschfelder, H D Rott.   

Abstract

A facio-renal-acromesomelic syndrome is reported in a 15-year-old boy with normal intelligence. The main dysmorphic features are a large head and congenital ptosis with telecanthus. There is unilateral ureteral stenosis with hydronephrosis. Bone abnormalities consist of ulnar dysplasia and tibial hypoplasia, multiple synostoses of carpal and tarsal bones, proximal synostoses of metatarsals, and of brachydactyly. A similar case has not been published.

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Year:  1995        PMID: 7735504

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


  3 in total

1.  Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

Authors:  Bertrand Isidor; Olivier Pichon; Richard Redon; Debra Day-Salvatore; Antoine Hamel; Karolina A Siwicka; Maria Bitner-Glindzicz; Dominique Heymann; Lena Kjellén; Cornelia Kraus; Jules G Leroy; Geert R Mortier; Anita Rauch; Alain Verloes; Albert David; Cédric Le Caignec
Journal:  Am J Hum Genet       Date:  2010-06-17       Impact factor: 11.025

2.  Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.

Authors:  S G Kant; A Polinkovsky; S Mundlos; B Zabel; R T Thomeer; H M Zonderland; L Shih; A van Haeringen; M L Warman
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025

3.  Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks.

Authors:  Xiaoli Chen; Jun Wang; Elyse Mitchell; Jin Guo; Liwen Wang; Yu Zhang; Jennelle C Hodge; Yiping Shen
Journal:  BMC Med Genet       Date:  2014-08-19       Impact factor: 2.103

  3 in total

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