Clinical Characteristics of Fragile X Syndrome Patients in Japan.

ABSTRACT:

Background

Fragile X syndrome (FXS) is a well-known X-linked disorder clinically characterized by intellectual disability and autistic features. However, diagnosed Japanese FXS cases have been fewer than expected, and clinical features of Japanese FXS patients remain unknown.

Methods

We evaluated the clinical features of Japanese FXS patients using the results of a questionnaire-based survey.

Results

We presented the characteristics of seven patients aged 6 to 20 years. Long face and large ears were observed in five of seven patients. Macrocephaly was observed in four of five patients. The meaningful word was first seen at a certain time point between 18 and 72 months (median = 60 months). Developmental quotient or intellectual quotient ranged between 20 and 48 (media

SUBMITTER: Okazaki T 

PROVIDER: S-EPMC7902172 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature