ESPE Abstracts

Introduction: Wolf-Hirschhorn syndrome (WHS) is a rare congenital disorder occurring in approximately 1/50.000 births, with a 2:1 femaleto-male predominance. It results from the hemizygous deletion encompassing the 4p16.3 region. The typical craniofacial phenotype is described as a « Greek warrior helmet appearance ».

Case Report: 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 retardation. Follow-up for epilepsy and put on background treatment for 2 years. The clinical examination objectified a particular cranio-facial phenotype, namely: a wide nasal bridge, microcephaly, a high forehead and prominent glabella, hypertelorism, a nose with straight and parallel edges, a thin upper lip and drooping corners, a small chin and micrognathia. Examination of the genitals found hypospadias with cryptorchidism. In addition, there is mental retardation, poor language and severe retardation of height and weight. Bone age corresponded to a delay of 3 years. The rest of the somatic examination is unremarkable apart from a hemangioma. IGF1 level was low with a GH peak at ˂ 7ng/ml on stimulation tests. Cerebral MRI was without abnormalities.

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

Conclusion: WHS diagnosis 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.