Literature DB >> 2225532

Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly?

W Reardon1, I K Temple, B Jones, M Baraitser.   

Abstract

We describe a 10-year-old girl with features of a frontonasal dysplasia and a right-sided Poland anomaly. As there has been one previous case report of pectoral muscle hypoplasia in association with craniofrontonasal dysplasia, the relationship between these two conditions is discussed.

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Mesh：

Year:  1990        PMID： 2225532     DOI： 10.1111/j.1399-0004.1990.tb03575.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  2 in total

1.  Poland anomaly and ulna shortage in two cousins.

Authors:  O Cogulu; F Ozkinay; O Yalman
Journal:  Indian J Pediatr       Date:  2000-06       Impact factor: 1.967

2.  Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.

Authors:  M E P van den Elzen; S R F Twigg; J A C Goos; A J M Hoogeboom; A M W van den Ouweland; A O M Wilkie; I M J Mathijssen
Journal:  Eur J Hum Genet       Date:  2013-11-27       Impact factor: 4.246
  2 in total

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