P119 Wolf hirschhorn syndrom (a case report). (June 2019)

• Record Type: Journal Article
• Authors: Charfi, Manel; Regaieg, Chiraz; Hamed, Amel Ben; Ayed, Iklas Ben; Hmed, Amel Ben; Bouraoui, Amira; Hmida, Nedia; Kamoun, Hassen; Thabet, Afef Ben; Gargouri, Abdellatif
• Is Part Of: Archives of disease in childhood. Volume 104:(2019)Supplement 3
• Page Start: A203
• Page End: A204
• Publication Date: 2019-06
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/archdischild-2019-epa.474
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : Introduction: Wolf-Hirschhorn syndrome is a rare condition including a characteristic facial appearance, delayed growth and development, hypotonia, intellectual disability and seizures. Its frequency is estimated at 1/20000 to 1/50000 births with a female predilection. It's due to a genetic material deletion near the short arm of chromosome 4 (4p-). Through this case report we aim to remind the mains and associated features of this rare disorder as well as its management. Methods: We report the case of male newborn with a Wolf-Hirschhorn syndrome. Results: A full term newborn was born by c-section indicated for a severe growth restriction. Birth weight was 1850 g, length was 45 cm and head circumference was 30, 5 cm. Clinical examination at birth noted an important hypotonia, cyanosis with no associated signs of respiratory distress, distinctive facial features including a broad and flat nasal bridge, a high forehead, widely spaced eyes with iridian coloboma, poorly provided eyebrows, poorly formed ears with a pre-tragic fistula, micrognathia, thin lips and posterior cleft palate associated to a spina bifida occulta, posterior hypospadias, testicular ectopia and mottled skin. Echocardiography showed a type A interruption of the aortic arch. The ultrasound examination of brain and abdomen was normal. The genetic tests concluded to a wolf-Hirschhorn syndrome with a (4p) deletion. The boy died at the age of one month due to a severe bronchiolitis. Parental genetic tests are planned. Conclusion: Wolf-Hirschhorn is a rare genetic disorder. It may be inherited but generally it occurs as a random event. Its outcome depends on associated malformations especially congenital heart disease. We insist on the importance of genetic counseling and antenatal diagnosis when index cases are registered.