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

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.

Screening Procedure for Hemihypertrophy: Preliminary Results of International Multicenter Prospective Study

Introduction: Isolated or congenital hemihypertrophy is a rare disorder characterized by asymmetric overgrowth of one side of the body. This article describes the protocol and preliminary results of a lateral body asymmetry (hemihypertrophy) screening procedure performed in healthy adolescents in a multicenter study. The reported incidence of hemihypertrophy varies between different publications and standardized protocols are needed to improve research in this area.Methods: Our screening program is taking place in Australia, Israel, Mexico, Ukraine and USA. Procedure includes two steps: (1) “three measurements – three questions” screening, or assessment of face, palms, and shins; (2) in-depth assessment of selected cases in order to exclude localized, lesional, and syndrome-related cases as well as body asymmetry within normative range and to select suspected cases of isolated hemihypertrophy. This step includes measurements of various anatomical regions and a detailed questionnaire.Results: At this stage, the screening procedure is completed and the selected participants are advised to refer to medical institutions for further clinical and genetic follow up to exclude possible tumors and other accompanying disorders.Conclusion: We present an easy-to-use selection tool to identify children with suspected IH, which results in the selection of the risk group that may benefit from referral to a pediatrician and a clinical geneticist.