Article
Fryns syndrome: a lethal birth defect with variable phenotypic expressions in siblings.
Indian journal of pediatrics - 1 Jun 2014
Arora Kamaldeep, Thukral Anu, Das Rashmi Ranjan, Gupta Neerja, Kabra Madhulika, Agarwal Ramesh
Abstract excerpt
Fryns syndrome (FS) is a multiple congenital anomaly syndrome, inherited as an autosomal recessive defect with variable expression. The authors report a newborn with FS, whose mother had two previous affected pregnancies with the infants having variable phenotypic expression. FS is characterized...
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