Cargando…

Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center

BACKGROUND: Hypoparathyroidism, retardation, and dysmorphism (HRD) Syndrome is a rare disease composed of hypoparathyroidism, retardation of both growth and development, and distinctive dysmorphic features. Here, we describe the long-term morbidity and mortality in a large cohort of HRD patients and...

Descripción completa

Detalles Bibliográficos
Autores principales:	David, Odeya, Agur, Rotem, Novoa, Rosa, Shaki, David, Walker, Dganit, Carmon, Lior, Eskin-Schwartz, Marina, Birk, Ohad S., Ling, Galina, Schreiber, Ruth, Loewenthal, Neta, Haim, Alon, Hershkovitz, Eli
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9352926/ https://www.ncbi.nlm.nih.gov/pubmed/35935360 http://dx.doi.org/10.3389/fped.2022.916679

Ejemplares similares

GHRH-GH-IGF1 axis in pediatric Down syndrome: A systematic review and mini meta-analysis
por: Shaki, David, et al.
Publicado: (2023)

GH treatment in pediatric Down syndrome: a systematic review and mini meta-analysis
por: Shaki, David, et al.
Publicado: (2023)

TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews
por: Shaki, David, et al.
Publicado: (2021)

Hypoparathyroidism-retardation-dysmorphism syndrome
por: Kumar, Kalenahalli Jagadish, et al.
Publicado: (2013)

Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency
por: David, Odeya, et al.
Publicado: (2022)

Novel Susceptibility Genes Drive Familial Non-Medullary Thyroid Cancer in a Large Consanguineous Kindred
por: Majdalani, Pierre, et al.
Publicado: (2023)

A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers
por: Perez, Yonatan, et al.
Publicado: (2017)

A Phase II, Double-Blind, Randomized, Placebo-Controlled, Multicenter Study Evaluating the Efficacy and Safety of Alpha-1 Antitrypsin (AAT) (Glassia(®)) in the Treatment of Recent-Onset Type 1 Diabetes
por: Lebenthal, Yael, et al.
Publicado: (2019)

An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria
por: Knerr, Ina, et al.
Publicado: (2005)

Three Supernumerary Marker Chromosomes in a Patient with Developmental Delay, Mental Retardation, and Dysmorphic Features
por: Hu, Jie, et al.
Publicado: (2011)

Noncompaction with dysmorphism, mental retardation, general wasting, and hypogonadism requires neurologic and sophisticated cytogenetic investigations
por: Finsterer, Josef, et al.
Publicado: (2015)

Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features
por: Korpaisarn, Sira, et al.
Publicado: (2013)

A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3
por: Halperin, Daniel, et al.
Publicado: (2022)

The Russian Registry of Chronic Hypoparathyroidism
por: Kovaleva, Elena V., et al.
Publicado: (2022)

Living with hypoparathyroidism: development of the Hypoparathyroidism Patient Experience Scale-Impact (HPES-Impact)
por: Brod, Meryl, et al.
Publicado: (2020)

Effect of Peritoneal Dialysis on Serum Fibrosis Biomarkers in Patients with Refractory Congestive Heart Failure
por: Kunin, Margarita, et al.
Publicado: (2019)

Understanding and treating body dysmorphic disorder
por: Singh, Aoife Rajyaluxmi, et al.
Publicado: (2019)

Review of Hypoparathyroidism
por: Abate, Ejigayehu G., et al.
Publicado: (2017)

Body dysmorphic disorder
por: Bjornsson, Andri S., et al.
Publicado: (2010)

Assessing the Patient Experience of Hypoparathyroidism Symptoms: Development of the Hypoparathyroidism Patient Experience Scale-Symptom (HPES-Symptom)
por: Brod, Meryl, et al.
Publicado: (2019)

Postoperative hypoparathyroidism after thyroid operation and exploration of permanent hypoparathyroidism evaluation
por: Wang, Xi, et al.
Publicado: (2023)

Hypertrophic cardiomyopathy in a patient with secondary hypoparathyroidism: A case report
por: Betancur, Juan Felipe, et al.
Publicado: (2022)

Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report
por: Krgovic, Danijela, et al.
Publicado: (2011)

Validation of Spanish Language Evaluation Instruments for Body Dysmorphic Disorder and the Dysmorphic Concern Construct
por: Senín-Calderón, Cristina, et al.
Publicado: (2017)

Clinical Presentation of Hypoparathyroidism
por: Cipriani, Cristiana, et al.
Publicado: (2021)

Treatment options in hypoparathyroidism
por: Sakane, Eliane Naomi, et al.
Publicado: (2022)

Hypoparathyroidism in children and adolescents
por: Korkmaz, Hüseyin Anıl, et al.
Publicado: (2023)

A registry for patients with chronic hypoparathyroidism in Russian adults
por: Gronskaia, Sofya, et al.
Publicado: (2020)

De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features
por: Varvagiannis, Konstantinos, et al.
Publicado: (2014)

Recent advances in understanding and managing body dysmorphic disorder
por: Krebs, Georgina, et al.
Publicado: (2017)

Body dysmorphic disorder and the ugly truth of Australian healthcare
por: Rossell, Susan L, et al.
Publicado: (2023)

Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?
por: D’Apice, Maria Rosaria, et al.
Publicado: (2015)

Hypoparathyroidism and reversible dilated cardiomyopathy
por: Babu, M. Suresh, et al.
Publicado: (2011)

An interesting case of primary hypoparathyroidism
por: Kirpalani, D. A., et al.
Publicado: (2014)

Under-recognized Hypoparathyroidism in Thalassemia
por: Tangngam, Hataitip, et al.
Publicado: (2018)

MON-530 Hypoparathyroidism in Sweden
por: Kamal, Wafa, et al.
Publicado: (2019)

Challenges in the management of chronic hypoparathyroidism
por: Zavatta, Guido, et al.
Publicado: (2020)

Chronic hypoparathyroidism and treatment with teriparatide
por: Marcucci, Gemma, et al.
Publicado: (2021)

Skeletal and nonskeletal consequences of hypoparathyroidism
por: Silva, Barbara C.
Publicado: (2022)

Intraoperative prevention of postoperative hypoparathyroidism
por: Vabalayte, Kristina, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_fm2k823ikmnorq1b9honfssjm7