Literature DB >> 939572

Brachydactylia with symphalangism, probably autosomal recessive.

R Walbaum, C Hazard, R Cordier.   

Abstract

Association, in one patient, of the following malformations: brachydactylia of all segments but terminal phalanges; proximal symphalangism of many fingers and toes; abnormalities of carpal and tarsal bones; partial duplication of both big toes; mild hypertelorism. Genetic transmission seems to be recessive autosomal.

Entities:  

Mesh：

Year:  1976        PMID： 939572     DOI： 10.1007/bf00281896

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  6 in total

1.  NORMAL AND ABNORMAL INTERORBITAL DISTANCES, WITH SPECIAL REFERENCE TO MONGOLISM.

Authors:  B E GERALD; F N SILVERMAN
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1965-09

2.  Hereditary Anchylosis of the Proximal Phalan-Geal Joints (Symphalangism).

Authors:  H Cushing
Journal:  Genetics       Date:  1916-01       Impact factor: 4.562

3.  [Multiple synostosis disease].

Authors:  P Maroteaux; J P Bouvet; M L Briard
Journal:  Nouv Presse Med       Date:  1972-12-16

4.  [Acrodysostosis].

Authors:  P Maroteaux; G Malamut
Journal:  Presse Med       Date:  1968-11-27       Impact factor: 1.228

5.  [Dominant hereditary bilateral dysplasia and synostosis of the elbow joint, with symmetrical brachymesophalangy and brachymetacarpy as well as synostoses in the finger, carpal and tarsal region].

Authors:  W Fuhrmann; C Steffens
Journal:  Humangenetik       Date:  1966

6.  Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation.

Authors:  M Robinow; R A Pfeiffer; R J Gorlin; V A McKusick; A W Renuart; G F Johnson; R L Summitt
Journal:  Am J Dis Child       Date:  1971-03
  6 in total

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