[A case of immunoskeletal dysplasia with neurodevelopmental abnormalities]

Zhonghua Er Ke Za Zhi. 2024 Jan 2;62(1):76-77. doi: 10.3760/cma.j.cn112140-20230915-00192.

[Article in Chinese]

Authors

Q Q Lin¹, X Y Wu¹, H H Tan¹, Y Huang¹, D Y Zhuang¹

Affiliation

¹ Department of Neonatology, Xiamen Hospital (Xiamen Children's Hospital), Children's Hospital of Fudan University, Xiamen 361000, China.

PMID: 38154982
DOI: 10.3760/cma.j.cn112140-20230915-00192

Abstract

患儿男，80日龄，因“发现腋窝肿物1 d”就诊。患儿表现为前额隆起、脸颊丰满等特殊面容以及扁平椎、椎间隙增宽等骨骼发育异常，实验室检测提示免疫缺陷，基因检测发现EXTL3基因c.1970A>G及c.1262G>A复合杂合变异，结合表型诊断为免疫骨骼发育不良伴有神经发育异常。.

Publication types

Case Reports

MeSH terms

Bronchopulmonary Dysplasia*
Child
Developmental Disabilities*
Humans
Infant
Infant, Newborn