Acromicric dysplasia caused by a mutation of fibrillin 1 in a family: A case report.

ABSTRACT:

Background

Acromicric dysplasia (AD) is a rare skeletal dysplasia. Its incidence is < 1/1000000, and only approximately 60 cases are reported worldwide. It is a disease characterized by severe short stature, short hands and feet, facial abnormalities, normal intelligence, and bone abnormalities. Unlike other skeletal dysplasia, AD has a mild clinical phenotype, mainly characterized by short stature. Extensive endocrine examination has not revealed a potential cause. The clinical effect of growth hormone therapy is still uncertain.

Case summary

We report a clinical phenotype of AD associated with mutations in the fibrillin 1 (FBN1) (OMIM 102370) gene c.5183C>T (p. Ala1728Val) in three people from a Chinese family. A 4-year-old member of the family first visited the hos

SUBMITTER: Shen R 

PROVIDER: S-EPMC10044957 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature