Literature DB >> 1523048

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

P W Gendall1, K Kozlowski.   

Abstract

Two cases with major features of bowed long bones, hypertelorism, mandibular hypoplasia and hand and foot abnormalities with early neonatal death due to respiratory failure are presented. The radiologic and clinical findings are in keeping with oto-palato-digital syndrome type II and differ significantly from other causes of bowed long bones such as campomelic and kyphomelic dysplasias.

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Year:  1992        PMID： 1523048     DOI： 10.1007/bf02019855

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


  10 in total

1.  Heterogeneity in the campomelic syndromes. Long-and short-bone varieties.

Authors:  A Khajavi; R Lachman; D Rimoin; R N Schimke; J Dorst; S Handmaker; A Ebbin; G Perreault
Journal:  Radiology       Date:  1976-09       Impact factor: 11.105

2.  Oto-palato-digital syndrome, type II: evidence for defective intramembranous ossification.

Authors:  T Ogata; N Matsuo; G Nishimura; H Hajikano
Journal:  Am J Med Genet       Date:  1990-06

3.  [The campomelic syndrome].

Authors:  P Maroteaux; J Spranger; J M Opitz; J Kucera; R B Lowry; R N Schimke; S M Kagan
Journal:  Presse Med       Date:  1971-05-22       Impact factor: 1.228

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

Authors:  N Fitch; S Jequier; R Gorlin
Journal:  Am J Med Genet       Date:  1983-08

5.  Brief clinical report: skeletal dysplasia with short, angulated femora (kyphomelic dysplasia).

Authors:  R N Maclean; W K Prater; C B Lozzio
Journal:  Am J Med Genet       Date:  1983-02

6.  Syndromes of congenital bowing of the long bones.

Authors:  K Kozlowski; H O Bützler; F Galatius-Jensen; A Tulloch
Journal:  Pediatr Radiol       Date:  1978-04-10

7.  Abnormal facies, cleft palate, and generalized dysostosis: a lethal X-linked syndrome.

Authors:  M André; J Vigneron; F Didier
Journal:  J Pediatr       Date:  1981-05       Impact factor: 4.406

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

Authors:  T G Brewster; R S Lachman; D C Kushner; L B Holmes; R J Isler; D L Rimoin
Journal:  Am J Med Genet       Date:  1985-02

9.  Congenital bowing of the long bones. A review and phenotype analysis of 13 undiagnosed cases.

Authors:  B D Hall; J Spranger
Journal:  Eur J Pediatr       Date:  1980-03       Impact factor: 3.183

10.  Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.

Authors:  H J Stern; J M Graham; R S Lachman; W Horton; P M Bernini; P K Spiegel; J Bodurtha; E J Ives; M Bocian; D L Rimoin
Journal:  Am J Med Genet       Date:  1990-06
  10 in total

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