PT  - JOURNAL ARTICLE
AU  - Kariminejad, Ariana
AU  - Goodarzi, Peyman
AU  - Thanh Huong, Le Thi
AU  - Wehnert, Manfred S.
TI  - Restrictive dermopathy. Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family
DP  - 2009 Jan 01
TA  - Saudi Medical Journal
PG  - 150--153
VI  - 30
IP  - 1
4099  - http://smj.org.sa/content/30/1/150.short
4100  - http://smj.org.sa/content/30/1/150.full
SO  - Saudi Med J2009 Jan 01; 30
AB  - Restrictive dermopathy RD, is an autosomal recessive lethal human genetic disorder. It is characterized by intrauterine growth retardation, tight and rigid skin with erosions, multiple joint contractures, lung hypoplasia, prominent superficial vasculature, and epidermal hyperkeratosis. In the present report, we describe the first case of restrictive dermopathy in a stillborn fetus of Iranian origin, confirmed by molecular genetic diagnosis. In the index case G-30159, a homozygous one base insertion in ZMPSTE24 exon 9 c.1085-1086insT was identified.We believe that by increasing awareness of this disease in clinicians, gynecologists, and pathologists, we may be able to help families who have had suspected cases of restrictive dermopathy be diagnosed, and offer molecular testing in carriers, and prenatal diagnosis to prevent the occurrence of further affected cases.