Literature DB >> 3706410

A further patient with the Pitt-Rogers-Danks syndrome of mental retardation, unusual face, and intrauterine growth retardation.

D Donnai.   

Abstract

A further case of a syndrome of pre- and postnatal growth retardation, characteristic face, and unusual palmar creases is described. This child also had hypoplasia of labia majora and minora, deafness, and head nodding. Apparently sporadic occurrence in this family does not rule out autosomal recessive inheritance of this syndrome first described by Pitt, Rogers, and Danks in 1984.

Entities:  

Mesh:

Year:  1986        PMID: 3706410     DOI: 10.1002/ajmg.1320240105

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.

Authors:  S G Kant; A Van Haeringen; E Bakker; I Stec; D Donnai; P Mollevanger; G C Beverstock; M C Lindeman-Kusse; G J Van Ommen
Journal:  J Med Genet       Date:  1997-07       Impact factor: 6.318

2.  Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.

Authors:  M W Partington; K Fagan; V Soubjaki; G Turner
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.