Restrictive 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.
van der Stege
J G
JG
Department of Perinatal Medicine, Sophia Hospital, Zwolle, The Netherlands.
van Straaten
H L
HL
van der Wal
A C
AC
van Eyck
J
J
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology; D000328:Adult; D001706:Biopsy; D005145:Face / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D011247:Pregnancy; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000151:congenital / Q000000981:diagnostic imaging* / Q000235:genetics; D016216:Ultrasonography, Prenatal