ESPE Abstracts

Introduction: Cantu Syndrome is a very rare disease characterised by hypertrichosis, macrocephaly, wide nasal bridge, long philtrum, rough face, widening of the costae, flattening of the vertebrae, widening of the metaphysis, cardiomegaly, pericardial effusion, ventricular hypertrophy, hypotonia, delayed speech and mental retardation as a result of autosomal dominant mutation in ABCC9 gene. There is very limited data on endocrine findings of Cantu Syndrome in ...

Subclavian artery disruption sequence explains the development and association of Poland, Klippel-Feil, and Moebius anomalies with the hypothesis of vascular etiology. Herein, the coupling of Klippel-Feil-Poland-Moebius Syndromes and the diagnostic process in a patient who presented to our outpatient clinic with breast asymmetry will be discussed. At the age of 11 years and 10 months, the patient presented with breast asymmetry (smaller left breast-hypotelia). The patient&apos...