Case report: Late middle-aged features of FAM111A variant, Kenny–Caffey syndrome type 2-suggestive symptoms during a long follow-up

Case report: Late middle-aged features of FAM111A variant, Kenny–Caffey syndrome type 2-suggestive symptoms during a long follow-up

Kenny–Caffey syndrome type 2 (KCS2) is an extremely rare skeletal disorder involving hypoparathyroidism and short stature. It has an autosomal dominant pattern of inheritance and is caused by variants in the FAM111 trypsin-like peptidase A (FAM111A) gene. This disease is often difficult to diagnose...

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Bibliographic Details
Main Authors: Yuka Ohmachi, Shin Urai, Hironori Bando, Jun Yokoi, Masaaki Yamamoto, Keitaro Kanie, Yuma Motomura, Yasutaka Tsujimoto, Yuriko Sasaki, Yuka Oi, Naoki Yamamoto, Masaki Suzuki, Hiroki Shichi, Genzo Iguchi, Natsumi Uehara, Hidenori Fukuoka, Wataru Ogawa
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Endocrinology
Subjects:
FAM111A
hypoparathyroidism
Kenny-Caffey syndrome type 2
short stature
sensorineural hearing loss
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2022.1073173/full

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https://www.frontiersin.org/articles/10.3389/fendo.2022.1073173/full

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