Parietal foramina with dressocranial dysostosis

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Classification according to ICD-10
Q74.0 Other congenital malformations of the upper extremity (s) and shoulder girdle
ICD-10 online (WHO version 2019)

The parietal foramina with dressocranial dysostosis is a very rare congenital disease with a combination of enlarged parietal foramina and dressocranial dysplasia .

Synonyms are: English Parietal Foramina with Cleidocranial Dysplasia; PFMCCD; Cleidocranial Dysplasia with Parietal Foramina

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

root cause

The disease are mutations in MSX2 - gene in chromosome 5 locus q35.2 basis.

Clinical manifestations

Clinical criteria are:

history

A description of the syndrome by the American pediatrician and human geneticist Mahin Golabi and colleagues comes from 1960 . also from 1963 by the British HB Eckstein and colleagues.

literature

  • S. Garcia-Miñaur, LA Mavrogiannis, SV Rannan-Eliya, MA Hendry, WA Liston, ME Porteous, AO Wilkie: Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. In: European journal of human genetics: EJHG. Vol. 11, No. 11, November 2003, pp. 892-895, doi: 10.1038 / sj.ejhg . 5201062 , PMID 14571277 .

Individual evidence

  1. ↑ a b c Foramina parietalia with dressocranial dysostosis. In: Orphanet (Rare Disease Database).
  2. ^ Parietal foramina with cleidocranial dysplasia.  In: Online Mendelian Inheritance in Man . (English)
  3. ^ M. Golabi, J. Carey, BD Hall: Parietal foramina clavicular hypoplasia. An autosomal dominant syndrome. In: American journal of diseases of children (1960). Vol. 138, No. 6, June 1984, pp. 596-599, PMID 6720648 .
  4. ^ HB Eckstein, RD Hoare: Congenital parietal 'foramina' associated with faulty ossification of the clavicles. In: British Institute of Radiology Vol. 36, 1963, pp. 220-221.

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