Literature DB >> 806047

Craniocarpotarsal dysplasia syndrome (whistling face syndrome). Case reports and survey of clinical findings.

N J Burzynski, P E Podruch, J Howell, K Snawder.   

Abstract

Case histories of two patients with the whistling face syndrome are presented. The most striking features are microstomia, midface hypoplasia, scoliosis, and retarded growth. Family histories were unremarkable, except possibly in Patient K. B.'s family, where three miscarriages in six pregnancies were noted. Biochemical and chromosome analysis did not reveal obvious changes. The genetics implied a sporadic inheritance pattern.

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Year:  1975        PMID: 806047     DOI: 10.1016/0030-4220(75)90110-3

Source DB:  PubMed          Journal:  Oral Surg Oral Med Oral Pathol        ISSN: 0030-4220


  1 in total

1.  p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome.

Authors:  Mohammad Al-Haggar; Soheir Yahia; Kristy Damjanovich; Nermin Ahmad; Iman Hamada; Pinar Bayrak-Toydemir
Journal:  Indian J Pediatr       Date:  2010-10-06       Impact factor: 1.967

  1 in total

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