title: Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant.
abstract: We report on 2 sibs with manifestations of the Kenny-Caffey syndrome born to normal, consanguineous parents. Clinical manifestations included dwarfism, internal cortical thickening and medullary stenosis of tubular bones, poorly ossified skull bones, and hypocalcemia. The younger of the two died during a tonic convulsion. The older had neonatal hypoparathyroidism and is now a short intelligent, 1-year-old child. This family gives new support to the existence of an autosomal recessive variant of the syndrome.
authors.affiliation: Istituto di Discipline Pediatriche, Università di Torino, Ospedale Civile, Carmagnola, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Franceschini
authors.forename: A
authors.initials: A
authors.lastname: Testa
authors.forename: G
authors.initials: G
authors.lastname: Bogetti
authors.forename: E
authors.initials: E
authors.lastname: Girardo
authors.forename: A
authors.initials: A
authors.lastname: Guala
authors.forename: G
authors.initials: G
authors.lastname: Lopez-Bell
authors.forename: G
authors.initials: G
authors.lastname: Buzio
authors.forename: E
authors.initials: E
authors.lastname: Ferrario
authors.forename: E
authors.initials: E
authors.lastname: Piccato
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics*; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006996:Hypocalcemia / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome