Literature DB >> 3976718

Oto-palato-digital syndrome, type II--an X-linked skeletal dysplasia.

T G Brewster, R S Lachman, D C Kushner, L B Holmes, R J Isler, D L Rimoin.   

Abstract

We report on two male infants with a lethal skeletal dysplasia characterized by cleft palate, midface hypoplasia, downward-slanting palpebral fissures, small thorax, and bowed limbs with absent fibulae. The clinical and radiographic changes are similar to those seen in the recently proposed oto-palato-digital syndrome, type II [Fitch et al, 1983]. The disorder is X-linked with heterozygous females being more mildly affected.

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Year:  1985        PMID： 3976718     DOI： 10.1002/ajmg.1320200207

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


  5 in total

1.  Otopalatodigital syndrome type II.

Authors:  S E Holder; R M Winter
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

2.  A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation.

Authors:  T Kondoh; N Okamoto; N Norimatsu; M Uetani; G Nishimura; H Moriuchi
Journal:  J Hum Genet       Date:  2007-01-31       Impact factor: 3.172

3.  Oto-palato-digital syndrome type II. Report of two related cases.

Authors:  P W Gendall; K Kozlowski
Journal:  Pediatr Radiol       Date:  1992

4.  Epidemiology, etiology, and genetic aspects of reduction deficiencies of the lower limb.

Authors:  Ismat Ghanem
Journal:  J Child Orthop       Date:  2008-04-09       Impact factor: 1.548

5.  Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II.

Authors:  Ali Al Kaissi; Raimund Kraschl; Wilhelm Kaulfersch; Franz Grill; Rudolf Ganger
Journal:  Clin Case Rep       Date:  2015-08-20
  5 in total

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