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Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant.
Am J Med Genet. 1992 Jan 01; 42(1):112-6.AJ

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+Show Affiliations

Istituto di Discipline Pediatriche, Università di Torino, Ospedale Civile, Carmagnola, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

1308349

Citation

Franceschini, P, et al. "Kenny-Caffey Syndrome in Two Sibs Born to Consanguineous Parents: Evidence for an Autosomal Recessive Variant." American Journal of Medical Genetics, vol. 42, no. 1, 1992, pp. 112-6.
Franceschini P, Testa A, Bogetti G, et al. Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. Am J Med Genet. 1992;42(1):112-6.
Franceschini, P., Testa, A., Bogetti, G., Girardo, E., Guala, A., Lopez-Bell, G., Buzio, G., Ferrario, E., & Piccato, E. (1992). Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. American Journal of Medical Genetics, 42(1), 112-6.
Franceschini P, et al. Kenny-Caffey Syndrome in Two Sibs Born to Consanguineous Parents: Evidence for an Autosomal Recessive Variant. Am J Med Genet. 1992 Jan 1;42(1):112-6. PubMed PMID: 1308349.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. AU - Franceschini,P, AU - Testa,A, AU - Bogetti,G, AU - Girardo,E, AU - Guala,A, AU - Lopez-Bell,G, AU - Buzio,G, AU - Ferrario,E, AU - Piccato,E, PY - 1992/1/1/pubmed PY - 1992/1/1/medline PY - 1992/1/1/entrez SP - 112 EP - 6 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 42 IS - 1 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1308349/Kenny_Caffey_syndrome_in_two_sibs_born_to_consanguineous_parents:_evidence_for_an_autosomal_recessive_variant_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1992&volume=42&issue=1&spage=112 DB - PRIME DP - Unbound Medicine ER -