Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha-fetoprotein |
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| Authors: | Harold N Bass MD Cheryl Miranda Rudolph Oei Barbara F Crandall |
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| Institution: | 1. Department of Obstetrics and Gynecology, Kaiser Permanente Medical Center, Fontana, California, U.S.A.;2. Division of Medical Genetics, UCLA Center for the Health Sciences, Los Angeles, California, U.S.A. |
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| Abstract: | A case of fatal generalized dystrophic epidermolysis bullosa is described in a prematurely born female whose mother had strikingly elevated mid-trimester serum and amniotic fluid alpha-fetoprotein concentrations, a positive amniotic fluid acetylcholinesterase band, and negative serial ultrasound studies. This case lends further support to an association between autosomal recessive generalized dystrophic epidermolysis bullosa and increased levels of alpha-fetoprotein, positive amniotic fluid acetylcholines'terase, and normal ultrasound findings. |
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| Keywords: | Amniotic fluid acetylcholinesterase Amniotic fluid alpha-fetoprotein Bullous dermatoses Collagen Epidermolysis bullosa Fetal ultrasound Maternal serum alpha-fetoprotein |
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