Literature DB >> 8291512

Metacarpophalangeal pattern profile analysis in Brachmann-de Lange syndrome.

M G Butler1, G A Dahir, D D Gale, F J Meaney.   

Abstract

We analyzed the metacarpophalangeal pattern profile (MCPP) of 19 individuals with Brachmann-de Lange syndrome (BDLS) and calculated a mean syndrome profile. Fourteen of 19 individuals with BDLS had significant positive correlations which indicated clinical homogeneity. Discriminant analysis of individuals with BDLS compared with a sample of normal individuals produced a correct classification rate of 100% based on a function of 2 MCPP variables that may provide a useful tool for assisting in the diagnosis of BDLS. An average pattern variability index calculated for the BDLS patients was 1.9 indicating an abnormal hand pattern in this syndrome.

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Year:  1993        PMID: 8291512      PMCID: PMC6054132          DOI: 10.1002/ajmg.1320470713

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


  10 in total

1.  Radiological manifestations of the Cornelia de Lange syndrome.

Authors:  F L Peeters
Journal:  Pediatr Radiol       Date:  1975-01-24

2.  Metacarpophalangeal pattern profile analysis in clinical genetics: an applied anthropometric method.

Authors:  M G Butler; F J Meaney; S G Kaler
Journal:  Am J Phys Anthropol       Date:  1986-06       Impact factor: 2.868

3.  Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.

Authors:  A K Poznanski; S M Garn; J M Nagy; J C Gall
Journal:  Radiology       Date:  1972-07       Impact factor: 11.105

4.  Metacarpophalangeal length in the evaluation of skeletal malformation.

Authors:  S M Garn; K P Hertzog; A K Poznanski; J M Nagy
Journal:  Radiology       Date:  1972-11       Impact factor: 11.105

5.  The thumb in the congenital malformation syndromes.

Authors:  A K Poznanski; S M Garn; J F Holt
Journal:  Radiology       Date:  1971-07       Impact factor: 11.105

Review 6.  The Brachmann-de Lange syndrome.

Authors:  J M Opitz
Journal:  Am J Med Genet       Date:  1985-09

7.  Brachmann-de Lange syndrome: evidence for autosomal dominant inheritance.

Authors:  L K Robinson; E Wolfsberg; K L Jones
Journal:  Am J Med Genet       Date:  1985-09

8.  Roentogenology of the Brachmann-de Lange syndrome.

Authors:  G J Kurlander; W DeMyer
Journal:  Radiology       Date:  1967-01       Impact factor: 11.105

9.  Applications of the pattern variability index (sigma z) to the quantification of dysmorphogenesis in the hand.

Authors:  S M Garn; W R Leonard; A K Poznanski
Journal:  Am J Med Genet       Date:  1987-05

10.  The hand profile on de Lange syndrome: diagnostic criteria.

Authors:  F Halal; M Preus
Journal:  Am J Med Genet       Date:  1979
  10 in total
  2 in total

1.  Metacarpophalangeal pattern profile analysis in Noonan syndrome.

Authors:  M G Butler; R Kumar; M F Davis; D D Gale; G A Dahir; F J Meaney
Journal:  Am J Med Genet       Date:  2000-05-15

Review 2.  SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature.

Authors:  H A Cooper; J Crowe; M G Butler
Journal:  Am J Med Genet       Date:  2000-05-01
  2 in total

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