Ontology highlight
ABSTRACT:
SUBMITTER: Lee D
PROVIDER: S-EPMC10765032 | biostudies-literature | 2023 Dec
REPOSITORIES: biostudies-literature
Lee Donghyun D Park So Yun SY Kim Heung Sik HS Kang Seokjin S
Annals of pediatric endocrinology & metabolism 20231231 4
Hypophosphatasia (HPP) is a rare condition characterized by abnormal bone mineralization. The manifestations of HPP vary from no symptoms to intrauterine fetal death; short stature is another indication of HPP. A 3 ½-year-old boy presented with short stature, transient hypercalcemia, and mild gait disturbance without definite bony deformity. Laboratory examination revealed transient hypercalcemia, normal phosphorous and 25-hydroxy vitamin D levels, and mildly low alkaline phosphatase levels. A t ...[more]