ABSTRACT
The TP63 gene is essential for epithelial proliferation, differentiation, and maintenance during embryogenesis. Despite considerable clinical variability, TP63-related symptoms are characterized by ectodermal dysplasia, distal limb malformations, and orofacial clefts. We identified a novel TP63 variant (c.619A > G, p.K207E) in a seven-month-old Chinese patient with orofacial clefts and ectrodactyly but no evident signs of ectodermal dysplasia. This phenotype was rarely reported before. We summarized the presence of the three main TP63-related manifestations in the literature and noted different distributions of CP- and CL/P-related variants regarding p63 structural domains.
ABSTRACT
Despite the large number of affected individuals in China, information on the descriptive epidemiology of orofacial clefts in the Chinese population remains limited. Therefore, the authors aimed to report a detailed clinical classification of orofacial clefts, including microform cleft lip (CL), and associated malformations in patients from a major cleft surgical unit in China. The authors reviewed the medical records of 718 patients who underwent primary cleft repair surgery at their center between December 2016 and April 2023. The sex distribution varied with cleft type and extent, and males had a higher proportion of clefts with increased severity than females. In patients with a unilateral CL, the ratio of left-to-right-sided clefts was 1.85:1. The frequency of associated congenital malformations in patients with microform CL only, overt CL only, CL and palate, and cleft palate only was 8.0%, 7.6%, 14.9%, and 30.9%, respectively. A total of 98 malformations were observed in 69 patients with congenital anomalies of unknown origin. Among these, cardiovascular anomalies were the most common, identified in 27 patients (39.1%), followed by head and neck and musculoskeletal anomalies. The high risk of heart defects highlights the importance of routine echocardiography. Microform CL exhibited increased prevalence and a similar frequency of associated malformations with overt CL, suggesting that this mild phenotype requires further attention by clinicians.
