Hemifacial microsomia with cardiac and vertebral anomalies: a case report and literature review
10.12016/j.issn.2096-1456.202550292
- Author:
ZHANG Zhiqiang
1
,
2
;
WANG Lili
3
;
WEN Cai
4
;
LEI Bo
2
;
LI Shiting
5
;
LI Jihua
1
Author Information
1. Department of Orthognathic & TMJ Surgery, West China Hospital of Stomatology, Sichuan University
2. Department of Stomatology, Aba Tibetan and Qiang Autonomous Prefecture People's Hospital
3. General Stomatology, Sichuan Provincial People’s Hospital
4. Department of Implantology, Stomatology Hospital Affiliated to Southwest Medical University
5. Department of Endodontics, Stomatology Hospital Affiliated to Southwest Medical University
- Publication Type:Journal Article
- Keywords:
hemifacial microsomia；first and second branchial arch syndrome；cardiac disease；Tetralogy of Fallot；scoliosis；developmental defects；surgical repair；multi-disciplinary treatment
- From:
Journal of Prevention and Treatment for Stomatological Diseases
2025;33(11):979-985
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical characteristics, diagnostic approach, and multidisciplinary treatment strategy for a rare case of congenital defect presenting as a complex of hemifacial microsomia with cardiac and spinal deformities, in order to provide a reference for the clinical management of such cases
Methods : The clinical data of a 9-year-old patient with hemifacial microsomia (HFM) complicated by post-operative Tetralogy of Fallot and scoliosis were retrospectively analyzed. A definitive diagnosis was established through specialized examinations, imaging studies, bone age assessment, and intellectual evaluation. The patient presented with right-sided HFM (with 3 accessory auricles, a transverse facial cleft, a microform median cleft of the upper lip, hypoplasia of the mandible and facial soft tissues, and agenesis of the right parotid gland and coronoid process), increased orbital distance, dental malalignment, congenital absence of one lateral incisor, and rampant caries in both primary and permanent dentition. The patient had undergone open-heart surgery for Tetralogy of Fallot with a patent foramen ovale four years prior and also presented with scoliosis and systemic developmental delay (bone age approximately 7 years). A retrospective analysis of the diagnosis and treatment of this type of case was conducted in conjunction with a literature review.
Results: A multi-disciplinary treatment (MDT) model was adopted. The patient first received treatment for dental caries, followed by excision of the right accessory auricles, repair of the transverse facial cleft, and correction of the microform upper lip cleft under general anesthesia. A 6-month follow-up showed significant improvement in facial appearance and good recovery of oral function. The literature review indicated that hemifacial microsomia is a congenital disease characterized by the hypoplasia of multiple tissue structures on one side of the face. Its etiology may be related to impaired blood supply to the first and second branchial arches during early pregnancy. It often affects the craniofacial bones, ears, and soft tissues, leading to functional impairments in respiration, feeding, speech, and hearing, as well as psychological issues, severely impacting the quality of life in serious cases. The combination with cardiac and spinal deformities is relatively rare and requires individualized sequential treatment plans based on clinical evaluation and surgical indications. This typically includes cardiac surgical correction, spinal orthopedics, early soft and hard tissue reconstruction (e.g., distraction osteogenesis, facial cleft repair, and accessory auricle excision), orthodontic and dental management during the growth period, and final facial contouring in adulthood.
Conclusion:HFM can be associated with cardiac and spinal deformities, presenting with complex clinical manifestations. Early diagnosis, MDT collaboration, and sequential treatment plans are key to improving patients’ prognosis and quality of life.
- Full text:202511110938190071半侧颜面短小合并心脏及脊柱畸形1例报告及文献回顾.pdf
