Aim: The term frontonasal dysplasia (FND) represents a spectrum of anomalies and its genetics have not been well defined. Recently, the critical role of the aristaless-like homeobox () gene family on the craniofacial development has been discovered. In the present study, we aimed to propose a systematic surgical treatment plan for the -related FNDs according to the genotypic classification as well as demonstrating their clinical characteristics to help surgeons diagnose the underlying pathology accurately.
Design: Single-institution retrospective.
Setting: Tertiary health care.
Patients And Methods: Eighty-nine FND cases were evaluated. Eight of them had -related FND3, 3 had -related FND1, and 2 had -related FND2. Phenotype characteristics of -related FNDs were evaluated, and relevant surgical interventions were assessed.
Results: The -related FND3 phenotype is striking due to the involvement of the eyes in addition to the presence of hypertelorism, facial clefts, and nasal deformities. A widened philtrum and prominent philtral columns are remarkable features of the -related FND1, whereas the -related FND2 has more severe deformities: severe hypertelorism, brachycephaly, large parietal bone defects, broad nasal dorsum, and alopecia. Facial bipartition, box osteotomies, eyelid coloboma repair, cleft lip and palate repair, nasal reconstruction, and fronto-orbital advancement can be performed in -related FNDs based on the characteristics of each subtype.
Conclusions: This genetic classification system will help surgeon diagnose patients with FND with unique features and draw a roadmap for their treatment with a better surgical perspective.
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