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Short stature with low serum alkaline phosphatase activity: a case report of hypophosphatasia.


ABSTRACT: 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 targeted next-generation sequencing panel associated with inborn errors of metabolism revealed a pathogenic heterozygous mutation in the ALPL gene, c.979T>C (p.Phe327Leu). When a child visits a hospital with short stature, decreased height velocity, and low alkaline phosphatase level, clinicians should consider the possibility of HPP even if definite skeletal dysplasia is not evident.

SUBMITTER: Lee D 

PROVIDER: S-EPMC10765032 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature

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Short stature with low serum alkaline phosphatase activity: a case report of hypophosphatasia.

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]

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