hrp0084p3-1048 | Growth | ESPE2015

A Rare Cause of Short Stature: the Floating Harbor Syndrome

Kayemba-Kay's Simon , Maillet Odile , Heron Anne

Background: Short stature has several causes ranging from complex hormonal deficiencies mostly related to pituitary gland genetics, to idiopathic and environmental causes such as maternal smoking in pregnancy, etc. Floating harbor syndrome is a rare genetic disorder characterized by short stature, delayed bone age, mild to moderate mental retardation, retarded speech development, and typical facial dysmorphic features. The syndrome is caused by heterozygous mutations in exon 3...

hrp0086p2-p844 | Syndromes: Mechanisms and Management P2 | ESPE2016

Growth Screening in Children Aged Three to Five Years Seen in Community Paediatrics in Dreux District, France: Preliminary Results

Kayemba-Kay's Simon , Brin Isabelle , Nicot Florence , Maillet Odile , Roudiere Jean-Louis , Nicola Luigi Di , Heron Anne

Background: Over 90% children grow normally, and attain final height within their genetic target. Up to 10% of all children do not spontaneously catch-up by the age 3 years, besides some cases of TS are diagnosed late, and others with SGA go undiagnosed and unattended.Objectives & Hypothesis: Early screening of growth patterns in children attending Child Protection Visits (PMI, France) in Dreux district. Our objective was the evaluation of prevalence...