Blepharophimosis-ptosis-intellectual-disability syndrome:a case report and literature review
10.3969/j.issn.1000-3606.2017.07.018
- VernacularTitle:睑裂狭小-上睑下垂-智障综合征1例报告并文献复习
- Author:
Lifang CAO
;
Xiaomei TONG
;
Yaping TIAN
;
Lin SONG
- Keywords:
biepharophimosis;
ptosis;
mental retardation;
gene mutation
- From:
Journal of Clinical Pediatrics
2017;35(7):543-547
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical features and gene mutations of blepharophimosis-ptosis-intellectual-disability syndrome (BPID). Methods The clinical data, diagnosis and treatment of a child with BPID in neonatal intensive care unit (NICU) were reviewed. Based on the literature retrieved from PubMed database, the common classification, clinical features, diagnosis and genetic counseling of BPID and its affiliated blepharophimosis-mental retardation syndromes (BMR) were reviewed. Results This male infant was 39 weeks of gestational age with birth weight of 1920 g, and was admitted to NICU 15 min after birth due to dyspnea. The main clinical manifestations were facial deformity such as biepharophimosis, ptosis and micromandible, inspiratory dyspnea with laryngeal cartilage softening, malformations of the thorax and feeding difficulties. A heterozygous mutation in UBE3B gene was identified by complete exon sequencing and he was diagnosed of BPID, a rare genetic disorder. Reviewing the literature, there was no relevant report in domestic. While one foreign literature was found to report 5 patients from 4 families having a subtype of BMR, a kind of autosomal recessive diseases caused by mutations in the UBE3B gene. Conclusion BPID is a rare clinical entity of BMR. Complete exon sequencing can be used to diagnose the disease.
