Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.
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.
Shaw
N J
NJ
Department of Paediatrics and Child Health, St James's University Hospital, Leeds.
Haigh
D
D
Lealmann
G T
GT
Karbani
G
G
Brocklebank
J T
JT
Dillon
M J
MJ
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