Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction
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Juan Diego Mejia
Abstract
Hypoparathyroidism, sensorineural deafness and renal dysplasia syndrome (HDRS) is comprised of a triad of conditions. It is an autosomal dominant condition caused by mutations in the GATA3 gene, located at 10p15, a critical region in the development of the embryonic parathyroid glands, inner ear, and kidneys. Here we describe the case of a patient with all three components of HDR syndrome diagnosed in the neonatal period who presented with cerebral infarction, hypocalcemia, and renal anomalies. Upon chromosomal microarray he was found to have an interstitial deletion at 10p, which produced a partial deletion in the GATA3 gene.
Acknowledgments
We thank Elizabeth G. Lipman Diaz for the help she provided reviewing and editing the original manuscript.
References
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©2014 by De Gruyter
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- Original articles
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- Benign vaginal bleeding in 24 prepubertal patients: clinical, biochemical and imaging features
- Evaluation of epicardial adipose tissue, carotid intima-media thickness and ventricular functions in obese children and adolescents
- Counseling patients with succinate dehydrogenase subunit defects: genetics, preventive guidelines, and dealing with uncertainty
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- Serum insulin-like growth factor-binding protein-3 level correlated with glycemic control and lipid profiles in children and adolescents with type 1 diabetes
- Adult human liver mesenchymal progenitor cells express phenylalanine hydroxylase
- Clinical applicability of rapid detection of SRY and DYS14 genes in patients with disorders of sex development using an indigenously developed 5′ exonuclease based assay
- Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
- Permanent neonatal diabetes mellitus in Jordan
- The effect of adenotonsilectomy on ghrelin, leptin, IGF-1 levels and growth parameters in children with adenotonsillar hypertrophy
- The role of anti-Mullerian and inhibin B hormones in the evaluation of 46,XY disorders of sex development
- The evaluation of thyroid carcinoma in childhood and concomitance of autoimmune thyroid disorders
- Lipid patterns in treated growth hormone deficient children vs. short stature controls
- Assessment of aortic morphology and compliance in children and adolescents with Ullrich-Turner syndrome (UTS) using magnetic resonance imaging (MRI)
- Management of central diabetes insipidus with oral desmopressin lyophilisate in infants
- Maternal factors and complications of preterm birth associated with neonatal thyroid stimulating hormone
- Patient reports
- A rare case of pituitary infarction leading to spontaneous tumour resolution and CSF-sella syndrome in an 11-year-old girl and a review of the paediatric literature
- Rare case of homozygous epimerase deficiency and heterozygous of duarte 2 variant
- Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p
- Growth hormone treatment in a patient with Hurler-Scheie syndrome
- Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction
- Early-onset diabetes mellitus and neurodevelopmental retardation: the first Greek case of Wolcott-Rallison syndrome
- Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus
- Cushing’s syndrome: hidden risk in usage of topical corticosteroids
- Prader-Willi syndrome: a case report with atypical developmental features
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- A rare case of familial Cushing’s syndrome with a common presentation of weight gain due to a mutation of the PRKAR1A gene causing isolated primary pigmented nodular adrenocortical disease
- Multiple autoimmunity, type 1 diabetes (T1DM), autoimmune thyroiditis and thyroid cancer: is there an association? A case report and literature review
- Cholestasis and protein-losing enteropathy secondary to hyperthyroidism in a 6-year-old girl
- Short communication
- An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis
- Letter to the Editor
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