EP09.07: Perinatal features of restrictive dermopathy in one dizygotic twin
نویسندگان
چکیده
منابع مشابه
Restrictive 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 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...
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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 − 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: report of one case and the metabolic and post-mortem findings.
Restrictive dermopathy is a rare and lethal autosomal recessive genodermatosis characterized by tight skin, typical dysmorphic face, generalized arthrogryposis and pulmonary hypoplasia. Infants with restrictive dermopathy have similar findings in skin biopsy, but other abnormalities are unremarkable. We report a male preterm infant with restrictive dermopathy. The post-mortem examination reveal...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics & Gynecology
سال: 2017
ISSN: 0960-7692
DOI: 10.1002/uog.18448