Presentation of Pallister-Hall-Like Syndrome in a Girl with a Homozygous Rare Variant in the Gene.

INTRODUCTION

Pallister-Hall-Like Syndrome (PHLS) (OMIM #241800), a rare ciliopathy associated with defects in the Sonic Hedgehog pathway, is characterized by postaxial polydactyly, hypothalamic hamartoma, cardiac and skeletal anomalies, and craniofacial dysmorphisms.

CASE REPORT

This report describes a 3-day-old girl from a consanguineous family diagnosed with bilateral postaxial polydactyly and facial dysmorphism. Genetic analysis revealed a homozygous pathogenic c.1726 C>T; p.Arg576Trp variant in the gene.

CONCLUSION

Consanguineous marriage causes predisposition to ultra-rare conditions. There have been eleven documented cases of this ultra-rare syndrome. To our knowledge, this is the first reported case in Turkiye, enriching our clinical understanding of PHLS.