Literature DB >> 2732996

A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.

J Clayton-Smith1, D Donnai.   

Abstract

Two sibs with a similar pattern of unusual facial features, limb malformations, and postnatal onset of ichthyosis are reported. The parents are first cousins and neither shows any stigmata of the disorder. The presence of ichthyosis suggests that there may be a metabolic component to this syndrome. In view of the consanguinity and pattern of the malformations, autosomal recessive inheritance seems likely.

Entities:  

Mesh:

Year:  1989        PMID: 2732996      PMCID: PMC1015604          DOI: 10.1136/jmg.26.5.339

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


  4 in total

1.  A syndrome characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria.

Authors:  J Passwell; L Zipperkowski; D Katznelson; A Szeinberg; M Crispin; S Pollak; R Goodman; M Bat-Miriam; B E Cohen
Journal:  J Pediatr       Date:  1973-03       Impact factor: 4.406

2.  Failure to thrive presenting with an unusual skin rash.

Authors:  J L Rosenblum; J Schweitzer; J M Kissane; T W Cooper
Journal:  J Pediatr       Date:  1985-07       Impact factor: 4.406

3.  Ichthyosis and neutral lipid storage disease.

Authors:  M L Williams; T K Koch; J J O'Donnell; P H Frost; L B Epstein; W S Grizzard; C J Epstein
Journal:  Am J Med Genet       Date:  1985-04

4.  Familial Hirschsprung's disease and type D brachydactyly: a report of four affected males in two generations.

Authors:  J F Reynolds; J C Barber; B A Alford; J G Chandler; T E Kelly
Journal:  Pediatrics       Date:  1983-02       Impact factor: 7.124

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.