منابع مشابه
Restrictive Dermopathy − A Case Report −
We report an infant delivered at 31 weeks gestation with restrictive dermopathy, which is a rare autosomal recessive genodermatosis. The baby had thin, tightly adherent skin that causes arthrogryposis and respiratory insufficiency. Histological findings of the skin include flat dermal-epidermal junction, thinned dermis with compactly arranged collagen fibers, and hypoplastic appendage structure...
متن کاملRestrictive Dermopathy.
http://dx.doi.org/10.1016/j.pedneo.2015.09.005 1875-9572/Copyright a 2015, Taiwan Pediatric Association. Published CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd third degree consanguineous parentage and delivered at 33 weeks of gestation by caesarean section. The weight at birth was 1.02 kg, and the occipitofrontal circumference was 30.5 cm. She had a wide anterior fontanell...
متن کاملRestrictive dermopathy. Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family.
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 ...
متن کاملRestrictive dermopathy in two sisters.
Restrictive dermopathy (RD) is a very rare and lethal congenital skin disease. It is inherited by an autosomal recessive pattern with characteristic features of abnormally rigid skin, generalized joint contractures (arthrogryposis), and dysmorphic facies consisting of downward slanting eyes, a small pinched nose, low-set ears, a fixed open mouth in the O-position, and micrognathia. We report on...
متن کاملRestrictive dermopathy and associated prenatal ultrasound findings: case report.
Restrictive dermopathy is a lethal autosomal recessive skin disease. Prenatal diagnosis has not yet been reported. We present a case of restrictive demography and describe the associated prenatal sonographic findings. A continuously open mouth was the most striking feature and this sonographic finding may be a marker of a skin disease.
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ژورنال
عنوان ژورنال: Korean Journal of Pediatrics
سال: 2007
ISSN: 1738-1061
DOI: 10.3345/kjp.2007.50.3.306