Journal of Genetic Syndromes & Gene Therapy
Open Access

Shahin Asadi

Publications

• Research Article
  Assessment of Mutation Genetics in FAM20A and FAM20C Genes Induction Syndrome Raine with New Mutation c.977-1T>A
  Author(s): Shahin AsadiShahin Asadi
  
  Syndrome Raine, a severe skeletal dysplasia is usually caused the deaths of patients aged newborn. There are reports that patients with a milder form of the disease to live longer and have reached the age of a child. Radiological surveys show an increase in bone density generalized sclerosis and osteoarthritis. Raine syndrome is a very rare hereditary lethal skeletal dysplasia. There are few reports of milder phenotypes in which patients survived until late childhood. Radiologic investigations show increased bone density and osteosclerosis. The increased density of bones in the head and face causes a characteristic dysmorphic feature that include a prominent and narrow forehead, proptosis, a small hypoplastic nose with depressed nasal bridge, mid-face hypoplasia, a triangular mouth, coanal atresia, and intracranial cerebral classification. Osteosclerosis is severe enough and could be .. View More»
  

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