• Case of gerodermia osteodysplastica (mutation in GORAB gene) in the child 
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Case of gerodermia osteodysplastica (mutation in GORAB gene) in the child 

SOVREMENNAYA PEDIATRIYA.2015.4(68):61-62; doi 10.15574/SP.2015.68.61 
 

Case of gerodermia osteodysplastica (mutation in GORAB gene) in the child 
 

Chernik-Bulent A., Bahmani I. V., Mammadova F. M.

Azerbaycan Medical Universaty, Baku 
 

The article describes a patient with dysplastic phenotype, in which was established one of the rare species of syndrome Cutis laxa — gerodermia osteodysplastica, associated with a mutation in GORAB gene. The detailed medical history, which allowed to suspect the syndrome, and the results of clinical, instrumental and medical-genetic examination confirmed the diagnosis are provided. The risks for the future children, will born in this family were shown. The article focuses on the importance of the social aspect of the prevention of re#birth in such families the sick children, which is achieved in a timely genetic consultation. 
 

Key words: gerodermia osteodysplastica, syndrome Cutis laxa, GORAB gene, children.

 

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