Literature DB >> 3014149

Type II syndactyly or synpolydactyly.

P Merlob, M Grunebaum.   

Abstract

A new family with syndactyly type II or synpolydactyly is described with 16 affected members in six generations. No other major skeletal or extraskeletal malformations were present, but the association with minor local anomalies may be a common feature. Various metacarpal or metatarsal abnormalities may be part of this type of syndactyly. The family pedigree confirms the autosomal dominant mode of inheritance with incomplete penetrance and the frequent occurrence of non-manifesting heterozygotes resulting in 'skipped generations'.

Entities:  

Mesh:

Year:  1986        PMID: 3014149      PMCID: PMC1049634          DOI: 10.1136/jmg.23.3.237

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  2 in total

1.  Type II syndactyly.

Authors:  H E Cross; D B Lerberg; V A McKusick
Journal:  Am J Hum Genet       Date:  1968-07       Impact factor: 11.025

2.  A family with syndactyly type II (synpolydactyly).

Authors:  M A Ridler; R Laxova; K Dewhurst; P Saldańa-Garcia
Journal:  Clin Genet       Date:  1977-10       Impact factor: 4.438

  2 in total
  2 in total

1.  A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.

Authors:  B S Sayli; A N Akarsu; U Sayli; O Akhan; S Ceylaner; M Sarfarazi
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

Review 2.  Type II familial synpolydactyly: report on two families with an emphasis on variations of expression.

Authors:  Mohammad M Al-Qattan
Journal:  Eur J Hum Genet       Date:  2010-08-18       Impact factor: 4.246

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.