Wolf-Hirschhorn syndrome a series of 18 patients: Their clinical characteristics, cytogenetic and molecular findings

Abstract

Objective: Wolf–Hirschhorn syndrome (WHS) (#194190) is a well-defined microdeletion syndrome characterized by typical facial findings, prenatal and postnatal growth retardation, hypotonia, microcephaly, intellectual disability, and seizures. Clinical findings vary depending on the size of the deletion. WHSC1, WHSC2, LETM1, CPLX1, CTBP1, PIGG, and FGFRL1 were responsible for the clinical findings. The objective of this study was to describe the clinical, cytogenetic, and molecular characteristics of patients diagnosed with WHS and to contribute to the existing literature by presenting our data.

Methods: This study retrospectively presents the clinical, cytogenetic, and molecular findings of 18 patients.

Results: All the patients had typical facial findings, growth retardation, microcephaly, hypotonia, and intellectual disability. Seizures were present in all patients, except for two. Moreover, 16 patients had thin corpus callosum on cranial magnetic resonance imaging. The diagnosis was confirmed by chromosomal analysis, fluorescence in situ hybridization, and microarray analysis.

Conclusion: Confirmation of the diagnosis is important for increasing clinical awareness, appropriate follow-up, of patients and genetic counseling.