Literature DB >> 896356

Oto-Palato-Digital syndrome with severe X-ray changes in two half brothers.

K Kozlowski, G Turner, J Scougall, J Harrington.   

Abstract

The first two cases, reported in Australia of Oto-Palato-Digital syndrome, in two half brothers and described. They show the most severe X-ray changes ever reported in this syndrome, and were already full-blown in one of the brothers who was radiographed at the age of 1 day. These two cases also broaden our clinical and radiographic spectrum of the disease.

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Mesh：

Year:  1977        PMID： 896356     DOI： 10.1007/bf00973530

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  4 in total

1.  Generalized skeletal dysplasia with multiple anomalies. A note on Pyle's disease.

Authors:  H TAYBI
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1962-09

2.  Oto-palato-digital syndrome: comparison of clinical and radiographic manifestations in males and females.

Authors:  J C Gall; A M Stern; A K Poznanski; S M Garn; E D Weinstein; J R Hayward
Journal:  Am J Hum Genet       Date:  1972-01       Impact factor: 11.025

3.  The roentgenographic features of the oto-palato-digital (OPD) syndrome.

Authors:  L O Langer
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1967-05

4.  The oto-palato-digital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia.

Authors:  B A Dudding; R J Gorlin; L O Langer
Journal:  Am J Dis Child       Date:  1967-02
  4 in total
  4 in total

1.  Radiographic findings in Shprintzen-Goldberg syndrome.

Authors:  G Nishimura; T Nagai
Journal:  Pediatr Radiol       Date:  1996-11

2.  An autosomal recessive disorder with retardation of growth, mental deficiency, ptosis, pectus excavatum and camptodactyly.

Authors:  F Khaldi; B Bennaceur; A Hammou; M Hamza; H A Gharbi
Journal:  Pediatr Radiol       Date:  1988

3.  Otopalatodigital syndrome type II.

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

4.  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
  4 in total

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