Literature DB >> 223247

Sclerosteosis in South Africa.

P Beighton, H Hamersma.   

Abstract

Sclerosteosis is a potentially lethal inherited disorder of skeletal overgrowth which has a minimum prevalence of 1 in 60,000 in the Afrikaner community of South Africa. Early presenting features are syndactyly and facial palsy, and the diagnosis should be considered in any infant of Afrikaner stock with these abnormalities. No medical treatment is available, but cosmetic surgery, cranial nerve decompression and prophylactic craniectomy be be of value.

Entities:  

Mesh:

Year:  1979        PMID: 223247

Source DB:  PubMed          Journal:  S Afr Med J


  7 in total

Review 1.  Medical genetics in South Africa.

Authors:  T Jenkins
Journal:  J Med Genet       Date:  1990-12       Impact factor: 6.318

2.  Sclerosteosis.

Authors:  P Beighton
Journal:  J Med Genet       Date:  1988-03       Impact factor: 6.318

Review 3.  Craniotubular bone disorders.

Authors:  R J Gorlin
Journal:  Pediatr Radiol       Date:  1994

Review 4.  [Surgery of the nerves of the neck, nose, and ear region (except Nn. stato-acusticus and olfactorius) (author's transl)].

Authors:  A Miehlke; E Stennert; R Arold; R Chilla; H Penzholz; A Kühner; V Sturm; J Haubrich
Journal:  Arch Otorhinolaryngol       Date:  1981

5.  Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.

Authors:  M E Brunkow; J C Gardner; J Van Ness; B W Paeper; B R Kovacevich; S Proll; J E Skonier; L Zhao; P J Sabo; Y Fu; R S Alisch; L Gillett; T Colbert; P Tacconi; D Galas; H Hamersma; P Beighton; J Mulligan
Journal:  Am J Hum Genet       Date:  2001-02-09       Impact factor: 11.025

6.  Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin.

Authors:  M Bueno; G Oliván; A Jiménez; J M Garagorri; A Sarría; A L Bueno; M Bueno; F J Ramos
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

7.  Recombinant sclerostin inhibits bone formation in vitro and in a mouse model of sclerosteosis.

Authors:  Timothy Dreyer; Mittal Shah; Carl Doyle; Kevin Greenslade; Mark Penney; Paul Creeke; Apoorva Kotian; Hua Zhu Ke; Vinny Naidoo; Gill Holdsworth
Journal:  J Orthop Translat       Date:  2021-06-21       Impact factor: 5.191

  7 in total

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