Literature DB >> 6614053

The oto-palato-digital syndrome, proposed type II.

N Fitch, S Jequier, R Gorlin.   

Abstract

We present a follow-up of the infant with oral, cranial, facial, and limb abnormalities described by us in 1976. Since then, several other very similar cases have been reported. We propose that this syndrome be called the oto-palato-digital syndrome, type II.

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Mesh：

Year:  1983        PMID： 6614053     DOI： 10.1002/ajmg.1320150416

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


  7 in total

Review 1.  International classification of osteochondrodysplasias. The International Working Group on Constitutional Diseases of Bone.

Authors:  J Spranger
Journal:  Eur J Pediatr       Date:  1992-06       Impact factor: 3.183

2.  Otopalatodigital syndrome type II.

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

3.  Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.

Authors:  S P Robertson; S Walsh; M Oldridge; T Gunn; D Becroft; A O Wilkie
Journal:  Am J Hum Genet       Date:  2001-06-06       Impact factor: 11.025

4.  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

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

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

6.  Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28.

Authors:  V Biancalana; B Le Marec; S Odent; J A van den Hurk; A Hanauer
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

7.  A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.

Authors:  Melissa Lah; Tejasvi Niranjan; Sujata Srikanth; Lynda Holloway; Charles E Schwartz; Tao Wang; David D Weaver
Journal:  Am J Med Genet A       Date:  2016-01-24       Impact factor: 2.802
  7 in total

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