Advancements in the diagnosis and management of Wolf-Hirschhorn syndrome

Introduction: Cooper and Hirschhorn first characterised Wolf-Hirschhorn syndrome (WHS) in 1961 as a condition described as a midline fusion defect with a partial chromosomal deletion.

Case: A 15-month-old female presented to the clinic with dysmorphic features, developmental delay, atrial septal defect (ASD) and pulmonary stenosis (PS). On physical examination, numerous craniofacial abnormalities were observed including a microcephaly with a head circumference of 42.5cm (<2nd centile), low-set ears, prominent glabella, down-slanting palpebral fissures, and a high nasal bridge with a characteristic ‘Greek warrior’ appearance seen in WHS patients.

Discussion: Modern innovations have demonstrated that the deletion size on chromosome 4 has a significant effect on long-term prognosis and management of WHS patients. As such, comparative genomic hybridisation array (CGH-array) has allowed for a more advanced diagnosis of complex phenotypes associated with microscopic deletions in WHS.

Conclusion: WHS is a rare condition that is often unnoticed or a neglected diagnosis by many doctors. Patients presenting with failure to thrive as an isolated finding and with characteristic facial features with other major deformities may be suggestive of WHS.