[Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis].

ABSTRACT: This article reported the clinical features of one child with infantile hypophosphatasia (HPP) and his pedigree information. The proband was a 5-month-old boy with multiple skeletal dysplasia (koilosternia, bending deformity of both radii, and knock-knee deformity of both knees), feeding difficulty, reduction in body weight, developmental delay, recurrent pneumonia and respiratory failure, and a significant reduction in blood alkaline phosphatase. Among his parents, sister, uncle, and aunt (other family members did not cooperate with us in the examination), his parents and aunt had a slight reduction in alkaline phosphatase and his aunt had scoliosis; there were no other clinical phenotypes or abnormal laboratory testing results. His ALPL gene mutation came from c.228delG mutation in his m

SUBMITTER: Li DF 

PROVIDER: S-EPMC7389124 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature