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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

Poster Presentations

Syndromes: Mechanisms and Management P1

hrp0086p1-p799 | Syndromes: Mechanisms and Management P1 | ESPE2016

NPR2 Gene Mutations Associated with Acromesomelic Dysplasia Maroteaux Type are Mostly Unique to Families

Castro-Feijoo Lidia , Barreiro Jesus , Guillen-Navarro Encarna , Journel Hubert , Wakeling Emma , Jagadeesh Sujatha , LeMerrer Martine , Silva Paula , Cabanas Paloma , Pombo Manuel , Loidi Lourdes

Background: Acromesomelic dysplasia Maroteaux type (AMDM) (OMIM 602875) is a rare autosomal recessive skeletal disorder with an approximate prevalence of 1/1,000,000) and characterized by severe dwarfism accompanied by shortness of distal and middle segments of extremities. Mutations in the NPR2 gene which encodes for the natriuretic peptide receptor B (NPR-B) is the underlying genetic cause of this disorder.Objective and hypotheses: Genetic con...

hrp0086p1-p800 | Syndromes: Mechanisms and Management P1 | ESPE2016

Rare Cases of Ornithine Transcarbamylase Deficiency and Variant Turner Syndrome

Kim Yoo-Mi , Lee Hoon Sang , Kim Gu-Hwan , Yoo Han-Wook , Kim Su young , Cheon Chong Kun

Background: Turner syndrome, a condition that affects only girls and women, result when the X chromosome is missing or partially missing. Ornithine transcarbamylase (OTC) deficiency, the most common inherited urea cycle disorder, is transmitted as a partially dominant X-linked trait. The OTC gene maps to Xp21.1 and spans approximately 73 kb, containing 10 exons and 9 introns. OTC deficiency is diagnosed using a combination of clinical findings and biochemical testing, while co...

hrp0086p1-p801 | Syndromes: Mechanisms and Management P1 | ESPE2016

Prepubertal Ultra-low-dose Estrogen Therapy is Associated with Better Lipid Profile than Conventional Estrogen Replacement for Pubertal Induction in Adolescent Girls with Turner Syndrome – Preliminary results

Wojcik Malgorzata , Ruszala Anna , Zygmunt-Gorska Agata , Janus Dominika , Wojtys Joanna , Starzyk Jerzy B.

Background: Estrogen replacement is a treatment of choice for pubertal induction in adolescent girls with ovarian failure due to Turner syndrome (TS). Recently published data show, that prepubertal low dose estrogen replacement is more physiologic, and can optimize response to growth hormone treatment, pubertal timing, and improve cognition. The metabolic effects of such treatment regimen have not been fully investigated to date.Objective and hypotheses:...

hrp0086p1-p802 | Syndromes: Mechanisms and Management P1 | ESPE2016

Cognitive Evaluation in Silver Russell Children

Patti Giuseppa , Malainho Virginie Coutinho , Dellatolas Georges , Dubern Beatrice , Doummar Diane , Netchine Irene

Background: Silver-Russell syndrome (SRS) is a heterogeneous syndrome characterized by severe intrauterine and postnatal growth retardation and typical dysmorphic features. The major abnormality is the hypomethylation of paternal allele of 11p15 imprinting centre region 1. In 10% of cases a maternal uniparental disomy of chromosome 7 (UPD7) can be detected. Speech delay and learning difficulties have been reported in these patients.Objective and hypothes...

hrp0086p1-p803 | Syndromes: Mechanisms and Management P1 | ESPE2016

Body Surface Area Estimation in Girls with Turner Syndrome: Implications for Interpretation of Aortic Sized Index

Fletcher A , McVey L , Guaragna-Filho G , Hunter L , Lemos-Marinia SHV , Santoro RI , Mason A , Wong SC

Background: Aortic sized index (ASI) defined as aortic root size/body surface area (BSA) is used to provide information on dissection risk in Turner Syndrome (TS). There are multiple equations for estimation of BSA. The impact of using a different BSA equation for calculation of ASI is unknown.Method: We calculated BSA of 114 TS girls from 2273 outpatient visits using Dubois, Mostellar, Haycock, Gehan, Boyd and Furqan formulae. BSA estimation with Dubois...

hrp0086p1-p804 | Syndromes: Mechanisms and Management P1 | ESPE2016

Near-Adult Height in a Large Cohort of Patients with Turner Syndrome and Noonan Syndrome Treated with rhGH: Results from Pfizer International Growth Database

Ranke Michael , Lindberg Anders , Camacho-Hubner Cecilia , Reinehr Thomas , Rooman Raoul

Background: Pfizer International Growth Database (KIGS) contains data of Turner syndrome (TS; N=7378) or Noonan syndrome (NS; N=613, female=224; male=389) patients who were treated with rhGH.Objective: To compare the effect of rhGH on near adult height (NAH) in TS and NS patients. We hypothesized a similar outcome in both diagnoses. Determinants of the treatment outcome in NS patients were also assessed.Patients a...

hrp0086p1-p805 | Syndromes: Mechanisms and Management P1 | ESPE2016

Percutaneous Epiphysiodesis Around the Knee Effectively Reduced Predicted Excessive Final Height. Preliminary Results on Final Height, Complications and Satisfaction in a Large Cohort of Dutch Boys and Girls

Goedegebuure Wesley , van der Steen Marieke , Jonkers Frank , Bakker-van Waarde Willy , Odink Roelof

Background: Percutaneous epiphysiodesis (PE) around the knee is the treatment of choice in the Netherlands to reduce predicted excessive final height. Studies until now are limited, had small numbers of patients and short follow-up periods.Objective and hypotheses: This nationwide Dutch long-term retrospective follow-up study aimed to assess final height (FH), complications and satisfaction after PE. Primary hypothesis was: ‘The PE around the knee i...

hrp0086p1-p806 | Syndromes: Mechanisms and Management P1 | ESPE2016

Metabolic Health and Safety of GH-Treatment in Silver-Russell Syndrome

Smeets Carolina , Renes Judith , Hokken-Koelega Anita

Background: Silver-Russell syndrome (SRS) is characterized by small for gestational age (SGA) birth, severe short stature and variable dysmorphic features. Children born SGA are at increased risk to develop adult-onset disease at a relatively young age. Growth hormone (GH)-treatment is a registered growth-promoting therapy for short children born SGA, including SRS. Data on metabolic health and long-term safety of GH-treatment in SRS are limited.Objectiv...

hrp0086p1-p807 | Syndromes: Mechanisms and Management P1 | ESPE2016

Auxological Features in Patients with Juvenile Idiopathic Arthritis Treated with Biologic Therapy Preliminary Study Data

Marino Achille , Cimaz Rolando , Giani Teresa , Simonini Gabriele , Stagi Stefano

Background: Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases associated with an increase of inflammatory cytokines that may to influence child growth. However this is already known, to date auxological data published of JIA patients during biologic treatment are incomplete and very heterogeneous.Objective and hypotheses: To evaluate the auxological features in a selected cohort of patients with JIA treated with biologic drugs....

hrp0086p1-p808 | Syndromes: Mechanisms and Management P1 | ESPE2016

Identification of 11p14.1-p15.3 Deletion Probably Associated with Short Stature, Macrocephaly and Delayed Closure of the Fontanelles

Dateki Sumito , Watanabe Satoshi , Kinoshita Fumiko , Yoshiura Koh-ichiro , Moriuchi Hiroyuki

Background: Interstitial deletions of the short arm of chromosome 11 are rare chromosomal anomalies, and are considered to be associated with several clinical conditions including WAGR syndrome.Objective: To report the clinical and molecular findings in the first case of a heterozygous 11p14.1-p15.3 deletion.Patient: A Japanese female patient was born at 39 weeks of gestation after an uncomplicated pregnancy and delivery. At birth,...

hrp0086p1-p809 | Syndromes: Mechanisms and Management P1 | ESPE2016

Early Treatment with rhGH in Patients with Prader-Willi Syndrome Results in Improved Height with No Respiratory Adverse Effects

Alatzoglou Kyriaki , Gopalakushnamoorthy Mahalakshmi , Trewella Emily , Mulla Aayesha , Tan Hui-Leng , Bridges Nicola

Background: Prader-Willi syndrome (PWS) is a complex genetic disorder caused by lack of expression of paternally inherited imprinted genes on Chr15q11-q13. rhGH has beneficial effects on growth, body composition and development. Starting age, dose titration and monitoring remain controversial.Objective: To study retrospectively children who presented in our multidisciplinary PWS clinic and assess response to rhGH treatment, auxology, IGF1 concentration a...

hrp0086p1-p810 | Syndromes: Mechanisms and Management P1 | ESPE2016

Phenotypic Variability in a Family with a New SHOX Gene Mutation

Festa Adalgisa , Grandone Anna , Luongo Caterina , Sasso Marcella , Mariani Michela , Del Giudice Emanuele Miraglia , Minari Roberta , Vottero Alessandra , Perrone Laura

Background: The phenotype of SHOX aploinsufficiency is highly variable also in affected members of the same family with broad differences in severity of short stature, disproportion, presence of Madelung deformity.Case presentation: We present a family with a new mutation of SHOX gene. A 2.3 years old girl, born at term from unrelated parents, came to our observation for short stature. Her height was −2.02 SDS, arm span was normal, sitting heigh/he...

hrp0086p1-p811 | Syndromes: Mechanisms and Management P1 | ESPE2016

Correlations between Prepubertal and Pubertal Estrogen Levels and Final Height Out-Come in Growth Hormone (GH) Treated Boys with Silver Russell syndrome

Kvernebo-Sunnergren Kjersti , Ankarberg-Lindgren Carina , AEkesson Karin , Dahlgren Jovanna

Background: Children with Silver Russell syndrome (SRS) suffer from severe intrauterine growth retardation. During infancy, short stature and delayed bone maturation are common features. A majority of these children initially have a good growth response to GH treatment. A catch-up period of skeletal maturation is often seen in early puberty. Later in puberty poor height acceleration may be seen.Objective and hypothesis: The objective of this study was to...

hrp0086p1-p812 | Syndromes: Mechanisms and Management P1 | ESPE2016

Skeletal Disproportion in Girls with Turner Syndrome

McVey L , Fletcher A , Murtaza M , Donaldson MD , Wong SC , Mason A

Background: Turner Syndrome (TS) is associated with short stature and skeletal disproportion. The impact of treatment with recombinant human growth hormone (rhGH) and oestrogen therapy on body proportions is unclear.Objectives: To evaluate sitting height (SH) and leg length (LL) in TS before growth promoting therapies and at adult height.Method: Retrospective study of height (Ht), SH and LL standard deviation score (SDS) in TS. Bod...

hrp0086p1-p813 | Syndromes: Mechanisms and Management P1 | ESPE2016

Reconsideration of Mid-Parental Height Calculation

Bereket Abdullah , Bugur Ibrahin Sinan , Guran Tulay , Atay Zeynep , Ekberzade Azad , Gurbanov Ziya , Oge Ece , Tas Cektar Seyid Riza , Turan Serap , Furman Andrzej

Background: Estimation of the child’s genetic height potential (target height) is an important tool in evaluating growth disorders. Midparental height (MPH) calculated as (Mothers height+Fathers height)/2±6.5 cm), used for this purpose, represents the child’s expected height based on parental heights.Objective and hypotheses: To evaluate the classical MPH calculations for our population and to explore the optimal MPH model using different ...

hrp0086p1-p814 | Syndromes: Mechanisms and Management P1 | ESPE2016

Changes to Thyroid Function (TF) Following Treatment with Growth Hormone (GH) Therapy in Children with Prader-Willi Syndrome (PWS)

Musthaffa Yassmin , Scheermeyer Elly , Hughes Ian , Harris Mark , Crock Patricia , Leong Gary

Background: Normal TF is necessary for optimal growth. Changes in the hypothalamic-pituitary-thyroid (HPT) axis following GH therapy are reported. GH therapy has been suggested to centrally inhibit TSH production as well as peripherally increasing T4 to T3 conversion which increases negative feedback on TSH production. Hypothalamic dysfunction is a feature of PWS, therefore these patients may be at risk of developing central hypothyroidism associated with GH therapy.<p cla...

hrp0086p1-p815 | Syndromes: Mechanisms and Management P1 | ESPE2016

6-Year-Old Girl with Mutation in DNMT3A – A New Overgrowth Syndrome

Ronholt Ann-Margrethe , Boxil Martin , Jensen Uffe , Hertz Birgitte

Background: Overgrowth disorders are a heterogeneous group of conditions characterized by increased growth and other clinical features. Overgrowth may be apparent at birth and can be static or progressive. Some syndromes are associated with increased tumor risk.Objective and hypotheses: A 6-year-old girl with accelerated growth rate was referred. She was born at term and was 55 cm long at birth (+2.4 SD). At 6 years, she was 134.4 cm tall (+3.7 SD) with ...

hrp0086p1-p816 | Syndromes: Mechanisms and Management P1 | ESPE2016

A Case of Patient with Rubinstein-Taybi Syndrome Type 2 with Complete Deletion of EP300 Gene and Complex Phenotype

Santoro Elisa , Marini Romana , Novelli Antonio , Alesi Viola , Dentici Maria Lisa , Cappa Marco

Background: Rubinstein-Taybi syndrome (RSTS) is a rare genetic syndrome characterized by postnatal growth retardation, intellectual disability, microcephaly, peculiar facial features, broad thumbs and big toes and other organs malformations. There are two forms: RSTS type 1 characterized by CREBBP gene mutations (16p13.3); RSTS type 2 dues to mutations/ deletions in EP300 gene (22q13.2). The type 2 is associated with mild phenotype with possible absence of the typical diagnost...

hrp0086p1-p817 | Syndromes: Mechanisms and Management P1 | ESPE2016

Silver-Russell Syndrome with 11p15 Epimutation: Clinical Analysis of Adrenarche, Central Puberty and Body Mass Index in a Cohort of French Children

Canton Ana , Brioude Frederic , Netchine Irene

Background: Silver-Russell syndrome (SRS) is characterized by intrauterine and postnatal growth retardation, a typical phenotype and feeding difficulties. It is related to 11p15 ICR1 hypomethylation in up to 50% of the cases. Some patients may exhibit signs of early puberty or premature adrenarche, including premature pubarche and/or an exaggerated adrenarche (high dehidroepyandrosterone sulfate (DHEAS) levels for chronological age). Despite early feeding difficulties, some ch...

hrp0086p1-p818 | Syndromes: Mechanisms and Management P1 | ESPE2016

Haploinsufficiency of Short Stature Homeobox Containing Gene: Clinical Signs and Anthropometric Measurements in Children

Genoni Giulia , Monzani Alice , Castagno Matteo , Giordano Mara , Prodam Flavia , Bellone Simonetta , Bona Gianni

Background: Haploinsufficiency of short stature homeobox containing gene (SHOX) is one of the main monogenic causes of short stature. The phenotype of SHOX deficiency (SHOX-D) is often mild, making difficult to identify which short-statured children should be screened.Objective and hypotheses: To estimate the prevalence of SHOX-D in Italian short-statured children and to analyse their phenotype and the sensitivity of various scores and anthropometric mea...

hrp0086p1-p819 | Syndromes: Mechanisms and Management P1 | ESPE2016

Clinical and Molecular Characterization of a Newly Recognized Overgrowth Syndrome: Interstitial 7q22.1-7q22.3 Microdeletion

Cheon Chong Kun , Kim Yoo-Mi , Kim Su Young

Background: Overgrowth syndromes comprise a group of disorders associated with excessive growth and other features such as facial dysmorphism, developmental delay, neurological problems and an increased risk of neoplasia. The genetic basis for many of these conditions is being increasingly elucidated. Here, we report on a 3-year-old boy who was referred for evaluation of generalized overgrowth.Objective and hypotheses: Our hypotheses is that unclassified...

hrp0086p1-p820 | Syndromes: Mechanisms and Management P1 | ESPE2016

International Cooperative Growth Study, NutropinAq® European Registry (iNCGS): Countries Specificities

Coutant Regis , Chiarelli Francesco , Munoz Jordi Bosch , Dumitrescu Cristina , Schnabel Dirk , Sert Caroline , Perrot Valerie , Dattani Mehul

Background: The European iNCGS registry aims to collect long-term safety and effectiveness information in paediatric patients receiving NutropinAq® for growth failure.Objective and hypotheses: To report patient baseline characteristics and exposure to NutropinAq® per country.Method: International, multicentre, open-label, non-interventional, post-marketing-surveillance study.Results: As of 31-Dec-20...

hrp0086p1-p821 | Syndromes: Mechanisms and Management P1 | ESPE2016

Case Report of 48,xxyy Syndrome Associated to Father’s Radioactive Contamination During the Cesium Accident in Goiânia – Goiás, Brazil

Pinto Renata Machado , Cunha Damiana Mirian , Ribeiroi Cristiano Luiz , da Silva Claudio Carlos , da Cruz Aparecido Divino

Background: In total of 48,XXYY Syndrome occurs in 1:20.000–1:50.000 male births. It used to be considered as a variant of Klinefelter syndrome, but now it is considered as a distinct clinical and genetic entity with increased risks for congenital malformations, additional medical problems and more complex psychological and neurodevelopmental involvement. 48,XXYY Syndrome results from the fertilization of a normal female oocyte (Xm), with an aneuploid sperm (XpYpYp) produ...

hrp0086p1-p822 | Syndromes: Mechanisms and Management P1 | ESPE2016

Neonatal Haematological Complication in Noonan Syndrome – Future Concerns about Growth Hormone Therapy

Kasongo Laura , Nicolescu Ramona

Background: Noonan syndrome (NS) is an autosomal-dominant inherited condition defined clinically by a short stature, specific phenotype, congenital heart disease, bleeding and hematologic abnormalities (particularly leukaemia). There is also a genetic heterogeneity, with all mutations involved in the RAS/mitogen-activated protein (MAP) kinase pathway and with PTPN11 gene mutations counting for almost 50% of patients.Objective and hypotheses: To describe ...

hrp0086p1-p823 | Syndromes: Mechanisms and Management P1 | ESPE2016

Effects of a Stressful Environment (SE) on Height, BMI and Menarche

German Alina , Mesch Gustavo , Shmoish Michael , Hochberg Ze'ev

Background: Children’s exposure to stress predicts poor health. Poor growth and maturation are recognized indicators of poor health.Objective and hypotheses: SE correlates with height, BMI and menarche. We correlated seven indicators of SE with countries’ average adult height, BMI and menarche age.Method: Data for 57 countries of average men and women’s height, BMI and menarche age were collected from WHO report. The...

hrp0086p1-p824 | Syndromes: Mechanisms and Management P1 | ESPE2016

Growth Hormone Deficiency in Noonan Syndrome: Does it Influence Clinical Response to GH Therapy?

Pellegrin Maria Chiara , Tornese Gianluca , Faleschini Elena , Masera Nicoletta , Pozzobon Gabriella , Selicorni Angelo , Ventura Alessandro

Background: Short stature is a main feature of Noonan syndrome (NS). Although rhGH is commonly used in NS patients, it is not known whether a defect in the secretion of GH influences the response to rhGH therapy.Objective and hypotheses: The aim of this study was to evaluate the efficacy and safety of rhGH treatment in NS patients, according to the presence of GH deficiency at the baseline.Method: We retrospectively collected data ...

hrp0086p1-p825 | Syndromes: Mechanisms and Management P1 | ESPE2016

Screening of Birth Length and Parental Height Detects Infants with Poor Catch-Up Growth at Age 2 Years

Sardar Colette Montgomery , Donnelly Sharon , Siddique Jamila , Kinmond Sheena , Gault Emma Jane , Donaldson Malcolm

Background: A programme of measuring birth length (BL) and parental heights (PH) for neonates classified as Small for Gestational Age (SGA, Birth Weight (BW) <9th centile, UK 1990 reference data) has been adopted in one Scottish hospital since 2008. Neonates with Short Stature (BL≤−2 standard deviation scores/SDS) are invited for re-measurement of weight and height at age 2 years, thus making medical services aware of individuals who have not had ade...

hrp0086p1-p826 | Syndromes: Mechanisms and Management P1 | ESPE2016

Etiologic Distribution and Characteristics of Patients with Short Stature in a Pediatric Endocrinology Clinic

Ozcan Sibel , Abali Saygin , Atay Zeynep , Haliloglu Belma , Bas Serpil , Ozturk Gamze , Cam Sevda , Akcay Teoman , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Short stature (SS) is one of the most frequent reasons for referral to pediatric endocrinology clinics.Objective and hypotheses: We aimed to analyse the etiological factors of SS, in patients of our clinic, who are referred from general paediatrics with high likelihood of endocrinological problems after primary screening.Method: 1519 patients (693F) with height <3% were included. Clinical, anthropometric, radiologic...

hrp0086p1-p827 | Syndromes: Mechanisms and Management P1 | ESPE2016

OSBPL5 Methylation Abnormalities may be Pathogenic in Silver Russell Syndrome Through Genomic Methylation Analysis

Wu Di , Gong Chunxiu , Su Chang , Cao Bingyan

Background: SRS is a typical epigenetic disease. Approximately 40% of patients can not be detected genetic and epigenetic disturbances.Objective and hypotheses: To analysis whether there is unknown genes or imprinted genes associated with pathogenicity of SRS and to detect the fine mapping SRS hypomethylation position through the Illumina Methylation 450K chip to detect genome-wide methylation differences.Method: To detect genome-w...

hrp0086p1-p828 | Syndromes: Mechanisms and Management P1 | ESPE2016

A Study of Bone Health Index (BHI) in Girls with Turners Syndrome

Frerichs Carley , Jenkinson Carly , Povall Anne , Abernethy Laurence , Das Urmi , Ramakrishnan Renuka , Senniappan Senthil , Didi Mohammed , Blair Jo

Background: Turners Syndrome (TS) is associated with osteoporosis in later life. ‘BoneXpert’ has enabled the automated assessment of bone age (BA) and Bone Health Index (BHI). Strong correlations between BoneXpert BHI and dual-energy x-ray absorptiometry and peripheral quantitative computed CT measurements are reported. BoneXpert produces a standard deviation score for BHI (BHI-SD) relative to a healthy cohort of children according to BA.Object...

hrp0086p1-p829 | Syndromes: Mechanisms and Management P1 | ESPE2016

Premature Adrenarche in Silver-Russell Syndrome: A Longitudinal Study

Ferrand Nawfel , Schweizer Roland , Binder Gerhard

Background: Silver-Russell syndrome (SRS) is reported to be associated with early adrenarche, but substantial studies are lacking.Objective and hypotheses: We aimed to determine the median age at onset of adrenarche, the prevalence of premature adrenarche as well as its causes and consequences.Method: Currently we have collected longitudinal data from 40 children with SRS seen during the last 20 years in our centre. The patients fu...

hrp0086p1-p830 | Syndromes: Mechanisms and Management P1 | ESPE2016

A Rare Case of Deletion in 2q24.1: Clinical Features and Response to Gh Hormone Treatment

Maggio Maria Cristina , Malacarne Michela , Vergara Beatrice , Corsello Giovanni

Background: Chromosomal imbalances are often due to sub microscopic deletions or duplications not evidenced by conventional cytogenetic methods.Objective and hypotheses: CGH array can help in the diagnosis of severe short stature, associated with mental retardation and dysmorphisms.Method: We describe the clinical case of a 13.1-year-old girl, born at 35 weeks, from a triplets pregnancy. She was 127.5 cm (<−5 SDS), 33 kg ...

hrp0086p1-p831 | Syndromes: Mechanisms and Management P1 | ESPE2016

Serum Levels of IL-6, TNF-a, Omentin-1 are Increased in Girls with Turner Syndrome

Chen Hongshan , Xiong Hui , Du Minlian , Li Yanhong , Ma Huamei , Chen Quili , Zhang Jun , Guo Song

Objective: To assess the serum levels of IL-6, TNF-a and Omentin-1 in girls with Turner Syndrome (TS) and to analyze their association with FPG, FINS, TC, TG, HDL-c, LDL-c, and BMISDS.Methods: In total of 33 TS girls aged (12.8±3.9) yr and 33 age-matched normal girls aged (12.6±3.7) yr were recruited in the study. Height (Ht) and Weight (Wt) were measured; FPG, FINS, TC, TG, HDL-c, LDL-c, IGF-1 and E2 were also measured; BMI and BMISDS were cal...

hrp0086p1-p832 | Syndromes: Mechanisms and Management P1 | ESPE2016

Effect of Dietetic Management on Weight in Children with Bardet-Biedl Syndrome

Uday Suma , Ali Muzzammil , Azam Waseema , Barrett Timothy

Introduction: Bardet-Biedl syndrome (BBS) is a monogenic disease characterized by retinitis pigmentosa (>90%), obesity (72–86%), insulin resistant diabetes, and hypogonadism. Weight management is challenging due to frequent association of learning and visual impairment. At our BBS MDT clinic, dietetic review is provided at each visit. Dietetic input focuses primarily on reduced fat and sugar content in diet and exercise is encouraged. Individualised written dietary pl...

hrp0086p1-p833 | Syndromes: Mechanisms and Management P1 | ESPE2016

Analysis of Phenotype and HRAS Gene Mutation in a Chinses Girl with Costello Syndrome

Zhang Lina , Liang Liyang , Meng Zhe , Ou Hui , Hou Lele , Liu Zulin

Background: Costello syndrome is a rare congenital disorder with characteristic findings involving multiple organ systems. The Costello Syndrome Family Network estimates that the birth prevalence in the United Kingdom is at least 1/500,000. So far, there has been only one affected individual reported in China.Objective and hypotheses: Diagnose the case of autosomal dominant Costello syndrome by direct squencing of HRAS gene. Analyze the correlation betwe...