Literature DB >> 222668

Oligodactyly and multiple synostoses of the extremities: two cases in sibs. A variant of Cenani-Lenz syndactyly.

P Dodinval.   

Abstract

Two sibs with a rare phenotype of oligodactyly with metacarpal, carpal, radioulnar, and metatarsal synostoses and shortening of the forearms were born of healthy parents. Genetic counselling with regard to future children of one of these sibs was given on the assumption of an autosomal recessive inheritance, which is highly probable, judging from the other rare familial cases found in the literature.

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Year:  1979        PMID: 222668     DOI: 10.1007/bf00286902

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


  11 in total

1.  Congenital fusion of bones: radiology, embryology and pathogenesis.

Authors:  J McCredie
Journal:  Clin Radiol       Date:  1975-01       Impact factor: 2.350

2.  [Observation of a coarse malformation of the hand in the first generation & a bilateral radio-ulnar synostosis in the second one].

Authors:  J WEISHAAR; G HEINRICH
Journal:  Fortschr Geb Rontgenstr Nuklearmed       Date:  1957-08

3.  [The oligodactylia syndrome in human and its parallel mutation in the house mouse; an abnormality complex with ulnar aplasia, reduction of the ulnar marginal rays and anomalies of the intermaxillary bone, sternum, kidneys and spleen].

Authors:  H WEYERS
Journal:  Ann Paediatr       Date:  1957-12

4.  The genetics of hand malformations.

Authors:  S A Temtamy; V A McKusick
Journal:  Birth Defects Orig Artic Ser       Date:  1978

5.  Split-hand and split-foot deformity inherited as an autosomal recessive trait.

Authors:  I C Verma; R Joseph; S Bhargava; S Mehta
Journal:  Clin Genet       Date:  1976-01       Impact factor: 4.438

6.  [Total syndactylia and total radioulnar synostosis in 2 brothers. A contribution on the genetics of syndactylia].

Authors:  A Cenani; W Lenz
Journal:  Z Kinderheilkd       Date:  1967

7.  Congenital radio-ulnar synostosis. Report of 37 cases.

Authors:  O H Hansen; N O Andersen
Journal:  Acta Orthop Scand       Date:  1970

8.  Radioulnar synostosis, behavioral disturbance, and XYY chromosomes.

Authors:  W W Cleveland; D Arias; G F Smith
Journal:  J Pediatr       Date:  1969-01       Impact factor: 4.406

9.  Familial radioulnar synostosis.

Authors:  R A Spritz
Journal:  J Med Genet       Date:  1978-04       Impact factor: 6.318

Review 10.  Limb anomalies in chromosomal aberrations.

Authors:  R A Pfeiffer; R Santelmann
Journal:  Birth Defects Orig Artic Ser       Date:  1977
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