ALX-Related Frontonasal Dysplasias: Clinical Characteristics and Surgical Management

VARGEL İ., Canter H. I. , KÜÇÜKGÜVEN A., Aydin A., Ozgur F.

CLEFT PALATE-CRANIOFACIAL JOURNAL, 2021 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Publication Date: 2021
  • Doi Number: 10.1177/10556656211019621
  • Journal Indexes: Science Citation Index Expanded, Scopus, CAB Abstracts, CINAHL, Educational research abstracts (ERA), EMBASE, Linguistics & Language Behavior Abstracts, MEDLINE, Veterinary Science Database
  • Keywords: ALX gene, cleft lip, cleft palate, facial clefts, frontonasal dysplasia, hypertelorism, median cleft, CNS STRUCTURAL ANOMALIES, MENTAL-RETARDATION, EYELID COLOBOMAS, EAR ANOMALIES, MACROBLEPHARON, HYPERTELORISM, MACROSTOMIA, DYSOSTOSIS, MUTATIONS, DEFECTS


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 (ALX) gene family on the craniofacial development has been discovered. In the present study, we aimed to propose a systematic surgical treatment plan for the ALX-related FNDs according to the genotypic classification as well as demonstrating their clinical characteristics to help surgeons diagnose the underlying pathology accurately.