Restrictive dermopathy – A rare congenital skin disorder
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 − 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. 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...
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Pulmonary agenesis is a rare congenital anomaly in which there is absence of pulmonary parenchyma as well as its bold vessels. It is an unusual cause of respiratory distress in newborn. Unilateral agenesis of lung is often associated with other congenital anomalies. The condition may lead to diagnostic difficulties. Right pulmonary agenesis has poor prognosis. Here we present a case of fem...
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ژورنال
عنوان ژورنال: Indian Journal of Dermatology
سال: 2020
ISSN: 0019-5154
DOI: 10.4103/ijd.ijd_554_18