Literature DB >> 1518028

Upper limb defect associated with developmental delay, unilateral poorly developed antihelix, hearing deficit, and bilateral choroid coloboma: a new syndrome.

J R Ward1, C Saad de Owens, I A Sierra.   

Abstract

Two sibs are reported with upper limb defect, developmental delay, central hearing loss, unilateral poorly developed antihelix, and bilateral choroid coloboma. The inheritance is probably autosomal recessive.

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Mesh:

Year:  1992        PMID: 1518028      PMCID: PMC1016070          DOI: 10.1136/jmg.29.8.589

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


  3 in total

1.  Familial heart disease with skeletal malformations.

Authors:  M HOLT; S ORAM
Journal:  Br Heart J       Date:  1960-04

2.  The lacrimo-auriculo-dento-digital syndrome.

Authors:  D W Hollister; S H Klein; H J De Jager; R S Lachman; D L Rimoin
Journal:  J Pediatr       Date:  1973-09       Impact factor: 4.406

3.  Feasibility of neonatal screening for Duchenne muscular dystrophy.

Authors:  R Skinner; A E Emery; G Scheuerbrandt; J Syme
Journal:  J Med Genet       Date:  1982-02       Impact factor: 6.318

  3 in total
  1 in total

Review 1.  Ocular coloboma: a reassessment in the age of molecular neuroscience.

Authors:  C Y Gregory-Evans; M J Williams; S Halford; K Gregory-Evans
Journal:  J Med Genet       Date:  2004-12       Impact factor: 6.318

  1 in total

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