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Clinical feature and genetic mutation of KBG syndrome diagnosed in neonatal period: A case report.

Medicine - 6 Oct 2023

Zhang HaoZheng, Guo Xuening, Yang Chun, Zhang Kaihui, Wang Dong, Wang Juan, Liu Yi, Kang Lili, Liu Qinghua, Li Xiaoying

Abstract excerpt

RATIONALE: KBG syndrome (KBGS, OMIM: 148050), a rare genetic disorder, is clinically characterized by megalodontia, short stature, skeletal abnormalities, and nervous system manifestations. In the study, we explore the clinical and genetic characteristics of one neonate suffering KBGS caused by ANKRD11 gene mutation. PATIENT CONCERNS: The proband, a female, was born prematurely at 31 + 2 weeks. There were...

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Abnormalities, Multiple
Bone Diseases, Developmental
Brain Injuries
Facies
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Intracranial Hemorrhages

Tooth Abnormalities

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PMID: 37800809
DOI: 10.1097/MD.0000000000035449
PMCID: PMC10553122

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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