Article
Discordant fetal phenotype of hypophosphatasia in two siblings.
American journal of medical genetics. Part A - 1 Jan 2018
Ikenoue Satoru, Miyakoshi Kei, Ishii Tomohiro, Sato Yu, Otani Toshimitsu, Akiba Yohei, Kasuga Yoshifumi, Ochiai Daigo, Matsumoto Tadashi, Ichihashi Yosuke, Matsuzaki Yohei, Tachikawa Kanako, Michigami Toshimi, Nishimura Gen, Ikeda Kazushige, Hasegawa Tomonobu, Tanaka Mamoru
Abstract excerpt
Hypophosphatasia (HPP) is an autosomal recessive metabolic disorder with impaired bone mineralization due to mutations in the ALPL gene. The genotype-phenotype correlation of this disorder has been widely described. Here, we present two affected siblings, whose fetal phenotypes were discordant. A 31-year-old Japanese woman, G0P0, was referred to our institution because of fetal micromelia. After obstetric...
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