Restrictive dermopathy and associated prenatal ultrasound findings: case report.
نویسندگان
چکیده
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.
منابع مشابه
Restrictive 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: 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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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...
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متن کاملRestrictive dermopathy associated with transposition of the great arteries and microcolon: a rare neonatal entity with new symptoms.
BACKGROUND Restrictive dermopathy is a very rare autosomal recessive skin disorder. The typical pathologic findings are striking: microstomia, micrognathia, thin but very tight translucent skin that tears spontaneously, and arthrogryposis multiplex. The mechanisms behind this disease are unknown. OBSERVATIONS We describe for the first time a newborn girl with restrictive dermopathy, transposi...
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ورودعنوان ژورنال:
- Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
دوره 10 2 شماره
صفحات -
تاریخ انتشار 1997