Article
Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome.
American journal of medical genetics. Part A - 1 May 2018
Saito Tomohiro, Nakane Takaya, Narusawa Munenori, Yagasaki Hideaki, Nemoto Atsushi, Naito Atsushi, Sugita Kanji
Abstract excerpt
Proteus syndrome (PS) is characterized by the progressive, segmental, or patchy overgrowth of the skin, and other tissues. This is the first case report of recurrent severe insulin-independent hypoglycemia in an infant with PS. Somatic p.E17K of AKT1 mutation was confirmed. The patient also had a giant umbilical cord, which has not yet been reported in PS.
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