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58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

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The theme of this year’s meeting is Variety and Variation in Paediatric Endocrinology. Join us in Vienna to explore the diversity we encounter in our discipline and the care that we have to exercise when using the term “normality”. Whilst gaining an update on the latest treatments, clinical best practice and cutting edge research in the field of paediatric endocrinology.

Poster Category 2

Bone, Growth Plate and Mineral Metabolism

hrp0092p2-26 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Successful Parathyroidectomy with Intraoperative Parathyroid Hormone Monitoring in a Neonate with Severe Primary Hyperparathyroidism due to a Novel CASR Mutation

Sorapipatcharoen Kinnaree , Poomthavorn Preamrudee , Mahachoklertwattana Pat , Wattanasirichaigoon Duangrurdee , Tim-Aroon Thipwimol , Karanes Sathit , Molagool Sani

Neonatal severe primary hyperparathyroidism (NSHPT) is a rare and life-threatening disorder caused by inactivating mutation in CASR gene, which encodes Ca-sensing receptor. NSHPT leads to severe neonatal hypercalcemia with inappropriately increased serum intact parathyroid hormone (iPTH) and decreased urinary Ca excretion. Hydration, forced diuresis, calcitonin, bisphosphonates and cinacalcet have been used to lower serum Ca prior to surgery. Total parathyroidectomy i...

hrp0092p2-27 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

The First Case Report of SEMD-JL1 in China

Huang Ke , Zhang Jianwei , Dong Guanpin

Background: Spondyloepimetaphyseal dysplasia with joint laxity type 1(SEMD-JL1) is a rare entity with a recessive inheritance. It is one of the genetic skeletal disorders (GSD) and B3GALT6 loss-of-function mutations were found in individuals with SEMD-JL1 from several families. However, there was no case described in China.Case report: An 8-year-old boy presented to our hospital with short stature, hyperlaxity w...

hrp0092p2-28 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Clinical Radiographic and Biochemical Findings of Three Patients with Hypophosphatasia Carrying the Same Mutation

Orbak Zerrin , Orbak Recep

Background: Hypophosphatasia (HP) is a rare inherited disorder characterized by defective bone and tooth mineralization and caused by deficiency in the tissue non-specific alkaline phosphatase gene (ALPL). The symptoms are remarkably variable in their clinical expression, and relate to numerous mutations in this gene.Aim: The purpose of this study was to document the clinical, biochemical and radiologic aspects of the th...

hrp0092p2-29 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Clinical and Genetic Characteristics of Pseudohypoparathyroidism Type 1A in Children Based on Single-center Cohort Study

Zhou Xuelian , Wu Wei , Huang Ke , Dong Guanping , Yuan Jinna , Liang Xinyi , Zhu Mingqiang , Fu Junfen

Background: Pseudohypoparathyroidism 1A (PHP1A) is a rare disease caused by mutations of GNAS gene, and characterized by Albright's hereditary osteodystrophy (AHO) and resistance to multiple hormones. Infantile onset is often missing diagnosed due to atypical clinical manifestations. This study aims to summarize the clinical and genetic characteristics of child onset PHP1A patients.Methods: 12 patients were ...

hrp0092p2-30 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Rare case of Neonatal Hypocalciuric Hypercalcemia Complicated with Arrhythmia

Arai Yuto , Okumura Ryo , Wada Soichiro , Haseyama Keiji , Sai Shuji

Background: Familial hypocalciuric hypercalcemia is a rare, lifelong, but benign hereditary disorder due to its mild, often asymptomatic phenotype. Here we present a rare case of neonatal hypocalciuric hypercalcemia complicated with arrhythmia.Case: A healthy male infant weighing 2636g was delivered by spontaneous vaginal delivery at term. The pregnancy had progressed normally, but neonatal arrhythmia was found by physic...

hrp0092p2-31 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Experience of Burosumab Therapy in Four Children with X-linked Hypophosphataemia in Saudi Arabia

Al-Juraibah Fahad , Al-Dubayee Mohammed , Babiker Amir

X-linked hypophosphataemia (XLH) is the most common form of inherited hypophosphataemic rickets, caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homologue X-linked (PHEX), resulting in excess circulating fibroblast growth factor 23 (FGF-23).1,2 In children, clinical features include delayed walking, waddling gait, leg bowing, pain, spontaneous dental abscesses and growth failure. Current therapies do not treat the underly...

hrp0092p2-32 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Pediatric Patients with Heterozygous ALPL Mutation show a Broad Clinical Phenotype

Melanie Brichta Corinna , Wurm Michael , Krebs Andreas , Lausch Ekkehart , Van der Werf-Grohmann Natascha , Schwab Karl Otfried

Introduction: Hypophosphatasia (HPP) is a congenital disorder of the bone and mineral metabolism. It is based on mutations in the ALPL gene, which codes for tissue-unspecific alkaline phosphatase (TNSAP). Methods:The casuistic of 3 children with heterozygous ALPL mutation are presented. The patients were identified by laboratory data screening for reduced AP activity at the Children's Hospital of the University Hospital Freiburg....

hrp0092p2-33 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Growth and Bone Mineral Density in Egyptian Children with Congenital Adrenal Hyperplasia on Glucocorticoid Replacement Therapy; A Single Center Study

Magdy Omar Omneya , Elsayed Shaymaa , Abokhashaba Mohamed , Abd El Fattah Magdy

Background: Children with congenital adrenal hyperplasia (CAH) need chronic glucocorticoid therapy, both to replace congenital deficit in cortisol synthesis and to suppress the overproduction of androgens by the adrenal cortex. High doses of glucocorticoid taken chronically might affect bone metabolism and lead to alterations of bone mass in this condition. In particular, they could increase bone resorption rate. Bone mineral density (BMD) by energy X-ray abso...

hrp0092p2-34 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Chronic Bone Disease in Pediatric Sickle Cell Disease Including a Case of Successful Bisphosphonate Therapy

Grimbly Chelsey , Girgis Rose , Jaremko Jacob L , Bruce Aisha

Background: Avascular necrosis (AVN) is common in Sickle Cell Disease (SCD), frequently involving the femoral and humeral head and less commonly involving the spine. AVN leads to joint collapse, chronic pain and disability, and often requires joint replacement in early adulthood. There are no medical therapies for AVN in SCD despite the high burden of disease and there are no published reports of bisphosphonate therapy in this condition....

hrp0092p2-35 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Clinical and Genetic Characteristics of 168 Russian Patients with Hypophosphatemic Rickets

Kulikova Kristina , Kolodkina Anna , Vasiliev Evgeny , Petrov Vasilij , Kenis Vladimir , Petrov Michael , Korkin Anatoly , Gofman Fedor , Tiulpakov Anatoly

Background: Hypophosphatemic rickets (HR) comprises a group of inherited forms of rickets characterised by renal phosphate wasting. Taking info account the latest advances in HR therapy, it now becomes of interest to better define the mutational and phenotypic spectra of disease.Objective and Hypotheses: The aim of this study was to clinically characterize and perform genetic analysis of 168 cases with HR.<p class="a...

hrp0092p2-36 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A 10-year-old Girl with Primary Hypoparathyroidism and Systemic Lupus Erythematosus (SLE)

Borysewicz-Sanczyk Hanna , Sawicka Beata , Michalak Justyna , Wójtowicz Jerzy , Dobrenko Elzbieta , Konstantynowicz Jerzy , Kemp Elizabeth , Thakker Rajesh , Allgrove Jeremy , Black Sarah , Chen Shu , Furmaniak Jadwiga , Rees Smith Bernard , Bossowski Artur

Introduction: Parathyroid Hormone (PTH) is one of the principal regulatory hormones for calcium and phosphate homeostasis. Reduced PTH concentration in hypoparathyroidism is characterised by hypocalcaemia and hyperphosphataemia.Case Presentation: We report a ten-year-old girl who was admitted to the Department of Paediatrics, Endocrinology, Diabetology with Cardiology due to repeated seizures, hypoalcaemia with suspected...

hrp0092p2-37 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

An Unusual Case of Hyperparathyroidism: Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC) Associated with Mutations in CLDN19

Lin Yuezhen

Background: FHHNC is an autosomal recessive disorder caused by mutations in either claudin 19 or claudin 16. This is a rare disorder of magnesium metabolism with fewer than 400 reported cases throughout the literature. It is also a somewhat underdiagnosed disorder, not being commonly observed.Case presentation: Patient was a 2 years old female who was incidentally noted to have nephrocalcinosis as part of evaluation for ...

hrp0092p2-38 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Skeletal Maturity and Growth in children with Type 1 Diabetes

Lohiya Nikhil , Khadilkar Anuradha , Khadilkar Vaman

Background: Type 1 diabetes (T1D) being a chronic disease is likely to affect growth in children. Bone age helps in assessing the growth of child in relation to their skeletal maturity. Skeletal maturity is delayed in chronic systemic illness.Objective: To study growth in relation to bone age and chronological age in children with T1D.Methods: Study design: Prospective observationa...

hrp0092p2-39 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Bone Mineral Status in Adults with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency

Othman Wafa Ben , Hadjkacem Faten , Gargouri Imen , Safi Wajdi , Charfi Nadia , Rekik Nabila , Kamoun Thouraya , Mnif Mouna , Abid Mohamed

Introduction: 21-Hydroxylase deficiency is the most frequent inborn error of steroidogenesis causing congenital adrenal hyperplasia (CAH). Bone status is affected by chronic glucocorticoid therapy and excess androgen exposure in patients with CAH. Our objective is to evaluate the bone mineral metabolism and density in adulthood in a Tunisian cohort.Subjects and Methods: We underwent a prospective study of 26 patients ove...

hrp0092p2-40 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Reduced Bone Mineral Density in Children with Inflammatory Bowel Disease without Exposure to Corticosteroid Treatment

Mitrogiorgou Marina , Karachaliou Feneli , Skarakis Nikitas , Simatou Aristophania , Peppa Melpomeni , Fessatou Smaragdi , Papaevangelou Vassiliki

Objectives: Bone mineral density is reduced in children and adolescents with inflammatory bowel disease (IBF). The exact cause of this reduction is not known and is often attributed to corticosteroid use. The aim of the study was to evaluate bone mineral density in children with IBF without previous corticosteroid exposure.Methods: Twelve children aged 8-17years with IBF (8 with Crohn's disease and 4 with ulcerative ...

hrp0092p2-41 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Clinical Dilemma in the Detection of Paediatric Hypophosphataemia

Ho Clement K.M. , Tan Jun Guan

Background: In paediatric patients with metabolic bone diseases, measurement of the concentrations of minerals including inorganic phosphate is often indicated, and hypophosphataemia is a clinically manageable biochemical disorder. The clinical interpretation of plasma or serum phosphate concentrations depends, to a certain extent, on the age- and gender-specific reference intervals applicable to the laboratory methods employed.Whereas h...

hrp0092p2-42 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Stuve-Wiedemann Syndrome: A Case Report without Osteorosis

Orbak Zerrin , Yüce Kahraman Çigdem , Orbak Recep , Özden Ayse , Tatar Abdulgani

Stüve-Wiedemann syndrome (SWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, neuromuscular abnormalities, dysautonomic symptoms, and respiratory and feeding distress usually resulting in early death.We report a girl, aged 6 years, with SWS. We measured bone mineral density in the lumbar spine, using dual-energy x-ray absorptiometry (DXA) with a densitometer (Hologic). The result is express...

hrp0092p2-43 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Rare Form of Vitamin D Receptors Dysfunction (vitamin D-dependent Rickets Type II) with Alopecia. A Case Report

Ahmed Shayma , Soliman Ashraf , Elawwa Ahmed , Hamed Noor , Alaaraj Nada

Introduction: VDDR II is an autosomal recessive disorder caused by a defect in the vitamin D receptor gene located on chromosome 12q12–q14. Thus far, 13 mutations have been identified. It is characterized by hypocalcemia, secondary hyperparathyroidism, and early onset severe rickets. Here we report a case of a severe form of rickets associated with alopecia.The Case: This 23-month-old boy was born at term to consang...

hrp0092p2-44 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Cinacalcet Experience in Hypercalcemia Due to CaSR Mutation

Döger Esra , Akbas Emine Demet , Kilinç Ugurlu Aylin , Küpçü Zekiye , Bideci Aysun , Çamurdan Orhun , Cinaz Peyami

Introduction: Heterozygous inactivating mutations of the CaSR gene (CaSR) generally result in mild, asymptomatic hypercalcemia in the familial hypocalcuric hypercalcemia syndrome. Homozygous inactivating CaSR mutations end up with neonatal severe hyperparathyroidism. Calcimimetics are drugs that interact with the transmembrane part of CaSR and make the receptor more sensitive to calcium. Cinacalcet, a type II calcimimetic, suppresses PTH levels and increases r...

hrp0092p2-45 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Two Siblings with Hypophosphatemic Rickets: SLC34A3 Gene Mutations with Different Clinical Phenotypes

Karakilic-Ozturan Esin , Ozturk Ayse Pinar , Kardelen Al Asli Derya , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza

Background: Hereditary hypophosphatemic rickets with hypercalciuria(HHRH; OMIM: 241530) is a rare autosomal recessive disorder,which is the result of loss-of-function mutations in the sodium-phosphate-cotransporter NPT2c.This disorder is characterized by renal phosphate(Pi) wasting,hypercalciuria,increased 1,25 (OH)2-D levels and decreased parathormone(PTH) levels.Here we report the clinical features of two siblings with HHRH,confirmed with molecula...

hrp0092p2-46 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Seasonal 25-hydroxy Vitamin D3 Variations in School-aged Children from Santiago de Chile

Poggi Helena , Dominguez Gonzalo , Monica Arancibia , Moore Rosario , D'Apremont Ivonne , Solari Sandra , Allende Fidel , Sifaqui Sofia , Garcia Hernan , Martinez-Aguayo Alejandro

Introduction: The main role of Vitamin D (VitD) is the regulation of calcium, which is also regulated by the parathyroid hormone (PTH), and phosphate metabolism. The main source of the more biologically active 25-hydroxy-Vitamin D3 (25OHVitD3) comes from the action of ultraviolet light on the skin.Aim: To determine if there are differences in concentrations of 25OHVitD3, calcium and PTH in school-aged children throughout...

hrp0092p2-47 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Vitamin D Deficiency among Children with Malignancy

Ghergherehchi Robabeh , Hazhir Nazanin , Hyradfar Ataollah

Introduction: Vitamin D deficiency is one of the most common nutritional deficiencies in the world. This vitamin plays an important role in cellular functions. Studies have shown that vitamin D plays a very important role in preventing the growth of cancer cells.Only a few studies have been done worldwide in relating the Vitamin D levels in pediatric cancer patients to the general population. The aim of this study was to compare the Vita...

hrp0092p2-48 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Novel Mutation of the Prkar1a Gene in a Girl with Clinical Diagnosis of Pseudohypoparathyroidism

Toromanovic Alma , Francesca Marta Elli , Mantovani Giovanna

Introduction: Despite the high detection rate of GNAS molecular defects, about 30% of patients with a clinical suspect of PHP/AHO still lack a confirming molecular diagnosis. Mutations in genes encoding proteins crucial for cAMP-mediated signaling have been recently detected in a small subset of patients negative for GNAS defects, showing a phenotypic overlap between PHP and Acrodysostosis.Clinical case pres...

hrp0092p2-49 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Successful Treatment with Enzyme Replacement Therapy in a Girl with Severe Infantile Hypophosphatasia

Heldt Katrin , L`Allemand Dagmar

Background: Infantile Hypophosphatasia (HPP) is an inborn error of metabolism characterized by low serum alkaline phosphatase activity caused by loss-of-function mutations within the ALPL-gene encoding the tissue nonspecific isoenzyme of ALP (TNSALP). TNSALP controls skeletal and dental mineralization by hydrolyzing inorganic pyrophosphate, a potent inhibitor of bone mineralization. Patients develop substantial skeletal disease, failure to thrive, and sometime...

hrp0092p2-50 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Bone Mineral Density in Children with Type 1 Diabetes Mellitus (T1DM) and Analysis of Possible Factors Affecting Their Bone Health; A controlled study

Abdel Meguid Ahmed Shaymaa Elsayed , Saleh Elsayed Salma Mohamed , Hazem Gouda Mohamed , Mokhtar Emara Doaa , Elawwa Ahmed , Soliman Ashraf

Type 1 diabetes mellitus (T1DM) may be associated with reduced bone mineral density (BMD). Possible pathogenic mechanisms include impaired bone anabolic effect due to decreased insulin and insulin-like growth factor 1 (IGF-I). In addition, hyperglycemia can impair osteoblast function.We measured anthropometric data, glycemic control (HbA1C), insulin dose /kg, calcium, PO4 and alkaline phosphatase and BMD by (DEXA scan at the spine (L2–L4) and at the...

hrp0092p2-51 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Perinatal form Hypophosphatasia Caused by a Novel Large Duplication of ALPL Gene and two year follow-up under Enzyme Replacement Therapy; A case report

Hacihamdioglu Bulent , Ozgurhan Gamze , Pereira Catarina , Tepeli Emre , Acar Gulsen , Comert Serdar

Hypophosphatasia is a rare disease caused by mutations in the gene encoding tissue- nonspecific isoenzyme of alkaline phosphatase. Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown that asfotase alfa treatment mineralizes the skeleton and improves respiratory function and survival in severe forms of hypophosphatasia.The newborn was evaluated for respiratory failure and generalized hypoton...

hrp0092p2-52 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A rare cause of hypophosphatemia: Raine Syndrome

Eltan Mehmet , Ata Pinar , Kirkgoz Tarik , Alavanda Ceren , Betul Kaygusuz Sare , Seven Menevse Tuba , Gurpinar Tosun Busra , Abali Zehra Yavas , Helvacioglu Didem , Guran Tulay , Elcioglu H.Nursel , Bereket Abdullah , Turan Serap

Background: Raine Syndrome (RS) is characterized by hypophosphatemia and typical facial dysmorphic features. Subperiostal thickening and diffuse generalized osteosclerosis are the most common radiological findings. Biallelic loss of function mutations in FAM20Cgene cause RS and by reduction of the transcription of DMP1 leads to FGF23-related hypophosphatemia. Here we present a new case with RS.Case: A 9-month-ol...

hrp0092p2-53 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Idiopathic Infantile Hypercalcemia: Mutations in SLC34A1 and CYP24A1 in Two Siblings and Fathers

Güven Ayla , Konrad Martin , Schlingmann Karl Peter

Background: Both CYP24A1 and SLC34A1 gene mutations are responsible for idiopathic infantile hypercalcemia (IIH). Whereas loss-of-function mutations in CYP24A1 (25-OH-vitamin D-24-hydroxylase) lead to a defect in the inactivation of active 1,25(OH)2-vitamin D3, mutations in SLC34A1 encoding renal sodium-phosphate co-transporter NaPi-IIa lead to primary renal phosphate wasting combined with an inappropri...

hrp0092p2-54 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Crouzon Syndrome: A rare case report of a 2-month old boy with Micrognathia and Proptosis

Zhang Cai , Luo Xiaoping , Hou Ling

Objective: To diagnose a 2-month old boy with micrognathia and proptosis.Method: We summarized the clinical manifestations of the patient. Blood tests and imaging examinations were performed. DNA was isolated from peripheral blood cells. Whole exosome sequencing (WES) was conducted. Copy number variation (CNV) and loss of heterozygosity (LOH) was analyzed by Affymetrix CytoScan.Result</stro...

hrp0092p2-55 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Novel Missense COL10A1 Mutation Identified by Next Generation Sequencing in a Chinese Pedigree with Schmid Metaphyseal Chondrodysplasia

Chen Qiong , Wu Shengnan , Chen Yongxing , Wei Haiyan

We have examined a female child patient aged about 3 years and 8months old to confirm the diagnosis of Schmid metaphyseal chondrodysplasia (SMCD) at the Genetics out-patient department, Children's Hospital Affiliated to Zhengzhou University. The child was diagnosed with the abnormal phenotypic characteristics who showed short-limbed dwarfism, bowed legs, waddling gait and genu varum. Based on the child's family history, during the early stages, the child was misdiagnos...

hrp0092p2-56 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

a case report of a girl with short stature has laron syndrome and spondyloepimetaphyseal dysplasia

Alshahrany abdullah , Alshahrany nouf

20 months old girl has frequent hypoglycemias, protruding forehead(frontal bossing), sunken bridge of the nose (saddle nose), and a blue tint to the whites of the eyes (blue sclerae). short limbs compared to the size of her torso, as well as small hands and feet, fragile thin hair,short limbs, Genu varum, Brachydactyly,malar falttening, motor delay, delayed teeth eruption, when plotted to growth chart height found far below the third centile for age,sex,population, Hre laborat...

hrp0092p2-57 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

A Novel Mutation of Phex Gene Inducing X-Linked Hypophosphatemia Rickets, A Case Report

Pinto Renata , Francisco Mendes Arthur , Barbosa Julio Montes , Steinmetz Lucas

Introduction: X-linked hypophosphatemic rickets (XHR) is the most common form of hereditary rickets, with an estimated incidence of 1: 20.000 individuals. The main characteristic of the disease is excessive renal phosphate loss, which leads to hypophosphatemia with high phosphaturia and defective bone mineralization.XHR results from mutations in the in the PHEX gene (Phosphate Regulatory Gene with Homology for Endopeptidases located on t...

hrp0092p2-58 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Skeleton Muscles and Tissues Metabolic Activity in Greek Adolescent PCOS

Geronikolou Styliani , Cokkinos Dennis , Bacopoulou Flora

Background: The skeleton, which is strongly controlled by endocrine factors, has recently been shown to play an active endocrine role itself, specifically influencing energy metabolism. However, its role in polycystic ovary syndrome (PCOS) phenotype is underinvestigated.Aim: Herein, we sought to identify novel factors involved in the regulation of both bone mass and whole-body homeostasis relevant to the disease.<p c...

hrp0092p2-59 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Spondyloocular Syndrome: Presentation of Two Siblings Diagnosed with The Rare Disease and The Results of Pamidronate Therapy

Vuralli Dogus , Simsek Kiper Pelin Ozlem , Utine Eda , Unsal Yagmur , Alikasifoglu Ayfer , Kandemir Nurgun

Spondyloocular syndrome (OMIM 605822) is an autosomal recessive disorder characterized by skeletal complaints (osteoporosis, platyspondyly, multiple bone fractures), hearing loss and ocular symptoms (cataracts, retinal detachment). XYLT2 gene (OMIM 608125) mutation encoding xylosyltransferase II enzyme which is responsible from the first step of proteoglycan assembly is responsible for the pathogenesis. Phenotypical variability is associated with varying genetic expre...

hrp0092p2-60 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Clinical and Genetic Characterization of Tunisian Children with Hereditary Hypophosphatemic rickets (HHR).

Wannes Selmen , Silve Caroline , Rassas Ahmed , Werdani Amina , BOUSOFFARA Raoudha , Mahjoub Bahri

Background: Hypophosphatemic rickets (HHR) is a vitamin D-resistant rickets and results in children in variable degrees of delayed walking, waddling gait, leg bowing, enlarged cartilages, bone pain, craniostenosis and growth failure. There are both inherited and acquired forms, where FGF23-dependent forms with X-linked dominant hypophosphatemic rickets (XLH) head of the list is the most prevalent genetic form; molecular defects of the sodium-phosphate co-trans...

hrp0092p2-61 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Osteogenesis Imperfecta: Genetic Evaluation

Castro-Feijoo Lidia , de la Torre Marina , Cabanas Paloma , Pino Jesus , Pombo Manuel , Barreiro Jesus , Loidi Lourdes

Osteogenesis imperfecta (OI) is a rare, hereditary bone dysplasia with a broad clinical spectrum that includes skeletal and extra-skeletal manifestations. It is genetically heterogeneous and there are multiple described mutations that explain the clinical variability of this entity and make it difficult to establish a genotype-phenotype correlation.Objectives: To evaluate the clinical and genetic characteristics of the patient with OI.</...