Whole-Exon Sequencing and Correlation Analysis of a 14-Month-Old Girl With Orofaciodigital Syndrome

Si L Li; Kong Y Li; Yong Q Wang

doi:10.1097/SCS.0000000000008764

Whole-Exon Sequencing and Correlation Analysis of a 14-Month-Old Girl With Orofaciodigital Syndrome

J Craniofac Surg. 2022 Nov-Dec;33(8):e831-e834. doi: 10.1097/SCS.0000000000008764. Epub 2022 Aug 17.

Authors

Si L Li¹, Kong Y Li, Yong Q Wang

Affiliation

¹ Department for Cleft Lip and Palate Treatment, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

PMID: 36409858
DOI: 10.1097/SCS.0000000000008764

Abstract

Orofaciodigital syndrome type 1 (OFDS1) is a genetic disorder characterized by specific oral, facial, and limb malformations. A 14-month-old girl with congenital cleft palate, lower lip midline cleft, and digital anomalies admitted to our hospital was preliminarily diagnosed with OFDS1. Genetic analysis revealed that she carried a heterozygous variant of OFD1 at locus Xp22.2 on the X chromosome. Herein, we present the specific phenotype and genotype and the treatment modalities for this patient and references for diagnosing and treating OFDS.

MeSH terms

Cleft Palate* / diagnosis
Cleft Palate* / genetics
Cleft Palate* / surgery
Exons
Face
Female
Humans
Limb Deformities, Congenital*
Orofaciodigital Syndromes* / diagnosis
Orofaciodigital Syndromes* / genetics