Literature DB >> 6720648

Parietal foramina clavicular hypoplasia. An autosomal dominant syndrome.

M Golabi, J Carey, B D Hall.   

Abstract

A male infant was evaluated with macrocephaly, scaphocephaly , a high forehead, a parietal foramen, a midline posterior occipital dermoid, and sloped shoulders. A skeletal survey also showed distal hypoplasia of the clavicles with bilateral loss of the acromion. Similar features were evident in his father, grandfather, and two paternal great-aunts. To our knowledge, this is the second report of this syndrome, which may be designated as parietal foramina-cleidocranial dysplasia. Our three-generation family and male-to-male transmission clearly established an autosomal dominant mode of inheritance for this syndrome.

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Year:  1984        PMID: 6720648     DOI: 10.1001/archpedi.1984.02140440080022

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN: 0002-922X


  2 in total

1.  Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.

Authors:  Roberto Mendoza-Londono; Edward Lammer; Rosemarie Watson; John Harper; Atsushi Hatamochi; Saori Hatamochi-Hayashi; Dobrawa Napierala; Pia Hermanns; Sinead Collins; Benjamin B Roa; Madhuri R Hedge; Keiko Wakui; Diep Nguyen; David W Stockton; Brendan Lee
Journal:  Am J Hum Genet       Date:  2005-05-27       Impact factor: 11.025

2.  A novel locus for parietal foramina maps to chromosome 4q21-q23.

Authors:  Gang Chen; Desan Zhang; Guoying Feng; Wanqing Liu; Lin He
Journal:  J Hum Genet       Date:  2003-08-07       Impact factor: 3.172

  2 in total

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