Literature DB >> 3039141

Hypoplastic tibiae with postaxial polysyndactyly: a new dominant syndrome?

S A Al-Awadi, K K Naguib, T I Farag, A S Teebi.   

Abstract

A five year old boy is reported with hypoplastic, bowed tibiae and postaxial polysyndactyly. Sixteen relatives of both sexes in four generations either have bilateral syndactyly or postaxial polydactyly or both. The nature of the condition and the possible mode of inheritance are discussed.

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Year:  1987        PMID： 3039141      PMCID： PMC1050104          DOI： 10.1136/jmg.24.6.369

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


  6 in total

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Authors:  M SALZER
Journal:  Zentralbl Chir       Date:  1960-04-23       Impact factor: 0.942

2.  A syndrome of polydactyly-syndactyly and triphalangeal thumbs in three generations.

Authors:  O Yujnovsky; D Ayala; A Vincitorio; H Viale; N Sakati; W L Nyhan
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

3.  A new syndrome with acrocephalopolysyndactyly, cardiac disease, and distinctive defects of the ear, skin, and lower limbs.

Authors:  N Sakati; W L Nyhan; W K Tisdale
Journal:  J Pediatr       Date:  1971-07       Impact factor: 4.406

4.  [An uncommon bone syndrome, associating heptadactylia with tibial aplasia].

Authors:  M Reber
Journal:  J Genet Hum       Date:  1968-01

5.  Bilateral aplasia of the tibia, polydactyly and absent thumb in father and daughter.

Authors:  H Pashayan; F C Fraser; J M McIntyre; J S Dunbar
Journal:  J Bone Joint Surg Br       Date:  1971-08

6.  Dominance and homozygosity in man.

Authors:  R M Pauli
Journal:  Am J Med Genet       Date:  1983-12
  6 in total
  3 in total

1.  Skeletal malformations and polycystic kidney disease.

Authors:  A E Turco; B Peissel; S Rossetti; P F Pignatti; E M Padovani; G P Chiaffoni
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

2.  Minor tibial duplication: a new cause of congenital bowing of the tibia.

Authors:  C Adamsbaum; G Kalifa; R Seringe; J C Bonnet
Journal:  Pediatr Radiol       Date:  1991

Review 3.  Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder.

Authors:  L B Holmes; R W Redline; D L Brown; A J Williams; T Collins
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318
  3 in total

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