Prenatal diagnosis of restrictive dermopathy.
We report three cases of Restrictive dermopathy from unrelated families. All were small for gestational age with small eyes and open mouth. Taut, stretched skin caused restriction of movements. Clavicular hypoplasia was a consistent radiological feature. Molecular diagnosis in the parents facilitated prenatal diagnosis from chorionic villous sample (CVS) in the subsequent pregnancy.
Jagadeesh
Sujatha
S
Department of Genetic Counseling, Mylapore, Chennai 600 004, India. fcrfchennai@yahoo.com
Bhat
Lathaa
L
Suresh
Indrani
I
Muralidhar
S Lata
SL
D003286:Contracture / Q000151:congenital / Q000175:diagnosis*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000235:genetics*; D008666:Metalloendopeptidases / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011296:Prenatal Diagnosis; D012868:Skin Abnormalities / Q000175:diagnosis* / Q000235:genetics*
D008565:Membrane Proteins; D008666:Metalloendopeptidases; C120130:ZMPSTE24 protein, human