ESPE Abstracts

Introduction: Wolf-Hirschhorn syndrome (WHS) is a rare congenital disorder occurring in approximately 1/50.000 births, with a female predominance. It results from the hemizygous deletion encompassing the 4p16.3 region. The typical craniofacial phenotype is described as a “Greek warrior helmet appearance.”

Observation: A 5-year-old boy is brought to the pediatric endocrinology consultation for short stature. He was born at term to a non-consanguineous couple with intrauterine growth restriction. Follow-up for epilepsy and treatment for 2 years. The clinical examination revealed a particular craniofacial phenotype, namely: a wide nasal saddle, microcephaly, a high forehead and a prominent glabella, hypertelorism, a nose with straight and parallel edges, a thin upper lip and corners. drooping, a small chin and micrognathia. Examination of the genitals reveals hypospadias with cryptorchidism. In addition, there is mental retardation, poor language and severe growth retardation. Bone age corresponded to a delay of 3 years. The rest of the physical examination was unremarkable apart from a hemangioma. IGF1 levels were low with GH peaking at 7 ng/ml during stimulation tests. The brain MRI was without abnormality.

Discussion: For our patient, the genetic study was carried out by objectifying: 46, XY ish dell (4) (p16.3p16.3) (WHSCR-) thus confirming the diagnosis. Genetic counseling is desirable. Paraclinical exploration in search of other associated malformations returned normal. Given the severe short stature with confirmed GH deficiency, treatment was initiated.

Conclusion: The diagnosis of WHS is based on physical examination and confirmed by molecular genetics or cytogenetic analysis. Most cases are sporadic, but an unbalanced translocation can be inherited from a parent with a balanced rearrangement. Treatment is symptomatic and requires a multidisciplinary approach.