Recognizable type of pituitary, heart, kidney and skeletal dysplasia mostly caused by SEMA3A mutation: A case report.

ABSTRACT:

Background

The SEMA3A gene, which is located at 7q21.11, is involved in hypothalamic neuron migration, heart development, kidney development, and skeleton metabolism. Mutation of the SEMA3A gene is associated with Kallmann syndrome 16 with or without a normal sense of smell. In addition, two case reports showed that mutation of the SEMA3A gene could cause short stature, low gonadotropin, hypogonadism, thoracic deformity, a high scapula, rib and lower limb deformity, facial deformity (long face, epicanthic folds, backwards ears), and arterial malformation.

Case summary

We reported the case of a 26-year-old Chinese man who was admitted because of short stature. Physical examination showed that he had many abnormal symptoms, including a short neck, facial m

SUBMITTER: Hu F 

PROVIDER: S-EPMC6819303 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature