A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.

ABSTRACT:

Background

Myhre syndrome is a rare multisystem genetic disorder that is caused by de novo heterozygous gain-of-function variants in SMAD4. Patients with Myhre syndrome exhibit several phenotypes at different ages such as small size, autism, developmental delay, left-sided heart defects, and hearing loss and often have a characteristic facial appearance. The early clinical diagnosis of Myhre syndrome remains a major challenge, particularly in the first year of life.

Methods

A Chinese male infant with syndactyly of fingers, hypertelorism, short palpebral fissures, and short philtrum was enrolled into the ENT department of the Chinese PLA General Hospital. Whole exome sequencing analysis was used to detect the disease-causing variant. A literature review of Myhre syndrome was

SUBMITTER: Yang K 

PROVIDER: S-EPMC10009913 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature