Balkan Journal of Medical Genetics

FEATURES OF THE WOLF-HIRSCHHORN SYNDROME (WHS) FROM INFANT TO YOUNG TEENAGER
Popescu D.E., Marian D., Zeleniuc M., Samoila Ch., Belengeanu V.
*Corresponding Author: Corresponding Author: Marian Diana, DMD, PhD, Ass. Prof, Department of Operative Dentistry, Faculty of Dental Medicine, “Vasile Goldiş” Western University of Arad, Liviu Rebreanu St, no.86, 310414 Arad, Romania; tel.: 0040744187899, e-mail: marian.diana@uvvg.ro
page: 75

INTRODUCTION

Wolf-Hirschhorn syndrome (WHS) is a 4p deletion syndrome (MIM 194190- Online Mendelian Inheritance in Man - 2023), 4p monosomy, 4p syndrome, with a broad range of clinical manifestations, such as intellectual disability and profound speech disabilities, growth deficiency and the hallmark facies named “Greek warrior helmet facies”. Three authors: Cooper [1], Hirschhorn [2] and Wolf [3] have reported the 4p deletion syndrome between 1961-1965, which became known as Wolf-Hirschhorn syndrome in 1965. The typical facial appearance, intellectual disability, hypotonia, growth delay and seizures, are considered minimal mandatory manifestations for diagnosing the syndrome [4]. Additional features may include: feeding difficulties, orofacial cleft, cardiac, renal and urogenital malformations (hypospadias, cryptorchidism or both), skeletal and dental anomalies, diaphragmatic hernia, omphalocele, hearing loss, recurrent infections and other complications [5,6,7]. In the 16p.3 chromosomal region, the existence of a minimum critical region of 165 Kb was defined as responsible for the characteristic phenotype [8]. The WHSC1 gene is included in the critical region (WHSCR) characteristic for the syndrome and is considered the main candidate gene involved in general development delay, characteristic facial dysmorphism and growth delay. Together with other candidate genes, such as WHSC2 (Wolf-Hirschhorn syndrome candidate 2) and LETM1 (Leucine Zipper And EF-Hand Containing Transmembrane 1), these are all major contributors to the WHS pathogenesis [9,10]. It is well known that the variability of phenotypic manifestations in WHS has been proportionate to the extent of the partial deletion in 4p [11]. In this study, we re-evaluated the case of a male patient with characteristic facial appearance for Wolf-Hirschhorn syndrome. The boy was first examined and diagnosed at 11 months, with follow-up at the ages of 4 and 16.

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