2022
DOI: 10.3389/fped.2022.916679
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Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center

Abstract: BackgroundHypoparathyroidism, 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 suggest recommendations for follow up and treatment.MethodsMedical records of 63 HRD syndrome patients who were followed at Soroka Medical Center during 1989–2019 were reviewed retrospectively. Information regarding … Show more

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“…Other important characteristics of the syndrome are significant delay in achieving developmental milestones, and significantly arrested gross and fine motor skill development. Speech is never achieved by some patients, whereas others have incomprehensible speech [ 4 ]. Eye and brain anomalies are common, as are multiple endocrine deficiencies (including hypothyroidism, adrenal insufficiency, and hypogonadism), epilepsy, and bowel obstruction.…”
Section: Introductionmentioning
confidence: 99%
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“…Other important characteristics of the syndrome are significant delay in achieving developmental milestones, and significantly arrested gross and fine motor skill development. Speech is never achieved by some patients, whereas others have incomprehensible speech [ 4 ]. Eye and brain anomalies are common, as are multiple endocrine deficiencies (including hypothyroidism, adrenal insufficiency, and hypogonadism), epilepsy, and bowel obstruction.…”
Section: Introductionmentioning
confidence: 99%
“…Susceptibility to pneumococcal infections is a significant aspect of this syndrome, as many patients succumb in infancy due to these infections . In a recent publication reporting a long-term follow-up of a large cohort of HRD patients, 33 out of 63 patients died before reaching the age of 5 years [ 4 ]. All but one patient died from infections, which included septic shock, meningitis, and pneumonia.…”
Section: Introductionmentioning
confidence: 99%
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