RT Journal Article
SR Electronic
T1 Restrictive dermopathy. Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 150
OP 153
VO 30
IS 1
A1 Kariminejad, Ariana
A1 Goodarzi, Peyman
A1 Thanh Huong, Le Thi
A1 Wehnert, Manfred S.
YR 2009
UL http://smj.org.sa/content/30/1/150.abstract
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.