title: Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.
abstract: Four children (two boys and two girls) with hypoparathyroidism, renal insufficiency, and developmental delay are described. They were the products of consanguineous marriages in three related Asian families presenting over a six year period. All the children died within the first 15 months of life despite treatment. Postmortem examination on one child showed absent parathyroid glands. We believe these children represent a previously undescribed syndrome that appears to be inherited in an autosomal recessive manner.
authors.affiliation: Department of Paediatrics and Child Health, St James's University Hospital, Leeds.
authors.forename: N J
authors.initials: NJ
authors.lastname: Shaw
authors.forename: D
authors.initials: D
authors.lastname: Haigh
authors.forename: G T
authors.initials: GT
authors.lastname: Lealmann
authors.forename: G
authors.initials: G
authors.lastname: Karbani
authors.forename: J T
authors.initials: JT
authors.lastname: Brocklebank
authors.forename: M J
authors.initials: MJ
authors.lastname: Dillon
mesh_terms: D002675:Child, Preschool; D003241:Consanguinity; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics*; D005183:Failure to Thrive / Q000209:etiology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications / Q000235:genetics*; D007231:Infant, Newborn; D007676:Kidney Failure, Chronic / Q000150:complications / Q000235:genetics*; D008297:Male; D010375:Pedigree