Congenital Partial Hemihypertrophy, Low Set Ears, Hypertelorism, and Epicanthi Folds: A Novel Syndromic Association

Abstract

Background: Congenital hemihypertrophy is a very rare condition that can be isolated or occurs in association with other congenital abnormalities and neoplasms, and well-recognized syndromes. Well-known syndromes that are associated with congenital hemihypertrophy include Klippel-Trenaunay-Weber syndrome, Beckwith Wiedemann syndrome, Goldenhar syndrome, Silver-Russell's syndrome. Partial hemihypertrophy affecting a limb is an extremely rare condition, and was probably first reported in 1949 by web, and very few cases have been reported in the literature. Patients and methods: Ten month old infant with partial hemihypertrophy, delayed development and facial dysmorphism who was observed at the pediatric neuropsychiatry clinic of Baghdad Medical City was studied. Results: The boy was hypotonic with developmental delay and has not been able sit yet. He had low set ears and facial dysmorphism consisting of hypertelorism and epicanthic folds. His right lower limb was obviously larger than the left. Parents were consanguineous, and family history was negative for similar condition. The rest of the examination was normal. Brain CT-scan, echocardiography, abdominal ultrasound, and chromosomal karyoype showed normal finding. Conclusion: Hemihypertrophy has not been reported in Iraq before. A novel syndromic association consisting of congenital partial hemihypertrophy, low set ears, hypertelorism, epicanthi folds, and developmental delay is reported in this paper.