Familial Holt-Oram syndrome: Report of a case & literature review

doi:10.3969/j.issn.1004-583X.2023.01.011

Abstract

Abstract:

Objective To explore the clinical manifestations and prognosis of Holt-Oram syndrome. Methods Echocardiography and imaging examination were performed for children with skeletal malformation of upper, and the whole-exome sequencing and whole-genome sequencing were performed for parents and children. Results The patient was born with congenital heart disease, the fragment heterozygosis loss (FHL) sized in approximate 0.6 Kb was detected in proband’s 12q24.21 region, and FHL was inherited from the mother, while Holt-Oram syndrome was diagnosed in combination with the clinical manifestations. Conclusion It is necessary to pay attention to Holt-Oram syndrome and possibility of heart disease in children with skeletal malformation of upper, with the aim of promoting early diagnosis & treatment and genetic counseling on children.

Key words: Holt-Oram syndrome, congenital heart disease, upper limb malformation, TBX5 genes, children

CLC Number:

R722.11

Liu Yuqing, Cheng Ji. Familial Holt-Oram syndrome: Report of a case & literature review[J]. Clinical Focus, 2023, 38(1): 71-74.

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https://lchc.magtechjournal.com/EN/Y2023/V38/I1/71

Figures/Tables 2

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