Subjects
The proband is an 8-year-old girl with normal parents. She was delivered
full-term of gestation by cesarean section with a birth weight of 3400 g
and a length of 50 cm. There was no specific abnormality identified when
she was delivered. While later, she was found to be unable to crawl at 1
year old. Clinical examination revealed signs of short statue, wide
ocular distance, strabismus, slightly upturned and broad nose, thin
upper lip, slightly hearing loss, protruding joints of the toes and
being nearly unable to speak. The proband was the first child of her
parents with no abnormality recognized during the pregnancy examination.
The result of echocardiography performed at 20 months old was normal. MR
examination of the brain in 2017 showed that the myelin sheath of the
proband was underdeveloped. The mother of the proband had a history of
four miscarriages. She was referred to the genetic counseling clinic
because of abnormal pregnancy when she was 18-week pregnant with no
abnormality found in the former pregnancy examination.