hrp0086p2-p668 | Growth P2 | ESPE2016

A Rare Cause of Growth Delay: Jacobsen Syndrome

Constantinescu Georgiana , Belceanu Alina , Bursuc Anamaria , Armasu Ioana , Braha Elena , Rusu Cristina , Mogos Voichita , Vulpoi Carmen

Background: Jacobsen syndrome is a rare genetic condition caused by partial deletion of the long arm of chromosome 11 associated with delayed development, distinctive facial features, bleeding disorder, skeletal abnormalities and endocrine disorders.Case report: We report a rare case of Jacobsen syndrome in 4 year old boy addressed for short stature. Born at term (36 W) with low birth weight (1780 g) and delayed development, his height at presentation wa...

hrp0086p2-p938 | Thyroid P2 | ESPE2016

Distal Monosomy 10q Presented as Congenital Hypothyroidism

Braha Elena Emanuela , Rusu Cristina , Armasu Ioana , Belceanu Alina , Popescu Roxana , Bursuc Anamaria , Vulpoi Carmen

Background: Distal monosomy 10q is a rare chromosomal anomaly characterized by unusually slow growth before and after birth, mild to severe intellectual disability and distinctive craniofacial features (hypertelorism, strabismus, a prominent or broad nasal bridge, and posteriorly rotated low-set ears). Some other anomalies have been described in various systems. The behavioral profile was characterized by marked inattention, hyperactivity and impulsivity. In recent years, subt...

hrp0082p3-d3-863 | Growth (4) | ESPE2014

Costello Syndrome: What About GH Treatment?

Manolachie Adina , Rusu Cristina , Fadur Alina , Bodescu Ioana , Braha Elena , Mogos Voichita , Vulpoi Carmen

Background: Costello syndrome (CS) is a rare autosomal dominant genetic disease, first described in 1971, part of neuro-cardio-facio-cutaneous syndrome (with RAS pathway genes mutations of MAPKinaza-RASopathies), characterized by short stature, delayed mental development, joint hiperlaxity, papillomas, congenital heart defects and increased risk to develop benign or malignant solid tumors.Case: We present the case of a teenaged girl (15 years 7 months), ...

hrp0086p2-p879 | Syndromes: Mechanisms and Management P2 | ESPE2016

SHORT Syndrome and rhGH Treatment – Is It Useful?

Armasu Ioana , Crumpei Iulia , Vasiliu Ioana , Rusu Cristina , Braha Elena , Zetu Irina , Raileanu Daniela , Preda Cristina , Vulpoi Carmen

Background: SHORT syndrome is an autosomal dominant genetic multisystem disorder determined by PIK3R1 gene mutations, which normally plays a role in cell signalling. SHORT is an acronym for short stature, hyperextensibility of joints and/or hernia, ocular depression, Rieger anomaly and teething delay. It is a rare condition; its prevalence is unknown with only few affected individuals and families reported worldwide.Case report: We report a case of 4 yea...

hrp0084p3-682 | Bone | ESPE2015

Metadiaphyseal Dysplasia Associated with Confirmed GH Deficiency: Family Report

Armasu Ioana , Braha Elena , Crumpei Iulia , Vasiliu Ioana , Manolachie Adina , Puiu Mirela , Zetu Irina , Mogos Voichita , Vulpoi Carmen

Background: Skeletal dysplasias are a heterogeneous group of more than 200 disorders characterised by abnormalities of cartilage and bone growth, resulting in abnormal shape and size of the skeleton.Case presentation: We present two children (brother 7 years and sister 11 years), investigated for growth retardation, part of five children brotherhood from apparently healthy non-consanguineous couple (mother’s height=158 cm and father’s height=16...

hrp0084p3-959 | GH & IGF | ESPE2015

Late Diagnosis of a Type II/III Mucolipidoses Treated with GH Replacement Therapy

Crumpei Iulia , Belceanu Alina , Armasu Ioana , Braha Elena , Rusu Cristina , Manolachie Adina , George Zmau , Preda Cristina , Vulpoi Carmen

Background: Mucolipidoses II/III (ML) are rare autosomal recessive lysosomal storage disorders (incidence: 1/325 000 live births). They have overlapping clinical phenotypes with mucopolysaccharidosis disorders and include growth retardation, facial dysmorphism, skeletal abnormalities, respiratory and heart diseases, hepatosplenomegaly and abdominal hernias. There is no specific treatment and the management has been limited to supportive care.Case present...

hrp0084p3-1038 | Growth | ESPE2015

Short Stature in a Rare 15q Duplication – is hGH Treatment Beneficial?

Manolachie Adina , Rusu Cristina , Braha Elena , Crumpei Iulia , Belceanu Alina , Puiu Mirela , Anton Mihaela , Leustean Letitia , Vulpoi Carmen

Introduction: Distal chromosome 15 duplication is a very rare genetic disease, first described in 1974 by Fujimoto et al. The symptoms and physical findings include prenatal and/or postnatal growth retardation, mental retardation, poor speaking abilities, asymmetrical dysmorphic facial features, malformations of the fingers and/or toes and sometimes heart conditions.Case report: We report a case of a 2 years 5 months old girl, born with SGA (uterine grow...