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[Kenny-Caffey syndrome and its related syndromes].
Nihon Rinsho. 2015 Nov; 73(11):1959-64.NR

Abstract

Kenny-Caffey syndrome (KCS) is a very rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. Two types of KCS were known: the autosomal recessive form (KCS type 1), which is caused by mutations of the TBCE gene, and the autosomal dominant form (KCS type 2), which is caused by mutations of the FAM111A gene. TBCE mutation also causes hypoparathyroidism-retardation-dysmorphism syndrome, and FAM111A mutation also causes gracile bone dysplasia. These two diseases can be called as KCS-related syndromes. In this article, we review the clinical manifestations of KCS and discuss its related syndromes.

Authors

No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

jpn

PubMed ID

26619675

Citation

Isojima, Tsuyoshi, and Sachiko Kitanaka. "[Kenny-Caffey Syndrome and Its Related Syndromes]." Nihon Rinsho. Japanese Journal of Clinical Medicine, vol. 73, no. 11, 2015, pp. 1959-64.
Isojima T, Kitanaka S. [Kenny-Caffey syndrome and its related syndromes]. Nippon Rinsho. 2015;73(11):1959-64.
Isojima, T., & Kitanaka, S. (2015). [Kenny-Caffey syndrome and its related syndromes]. Nihon Rinsho. Japanese Journal of Clinical Medicine, 73(11), 1959-64.
Isojima T, Kitanaka S. [Kenny-Caffey Syndrome and Its Related Syndromes]. Nippon Rinsho. 2015;73(11):1959-64. PubMed PMID: 26619675.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Kenny-Caffey syndrome and its related syndromes]. AU - Isojima,Tsuyoshi, AU - Kitanaka,Sachiko, PY - 2015/12/2/entrez PY - 2015/12/2/pubmed PY - 2016/2/19/medline SP - 1959 EP - 64 JF - Nihon rinsho. Japanese journal of clinical medicine JO - Nippon Rinsho VL - 73 IS - 11 N2 - Kenny-Caffey syndrome (KCS) is a very rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. Two types of KCS were known: the autosomal recessive form (KCS type 1), which is caused by mutations of the TBCE gene, and the autosomal dominant form (KCS type 2), which is caused by mutations of the FAM111A gene. TBCE mutation also causes hypoparathyroidism-retardation-dysmorphism syndrome, and FAM111A mutation also causes gracile bone dysplasia. These two diseases can be called as KCS-related syndromes. In this article, we review the clinical manifestations of KCS and discuss its related syndromes. SN - 0047-1852 UR - https://www.unboundmedicine.com/medline/citation/26619675/[Kenny_Caffey_syndrome_and_its_related_syndromes]_ L2 - https://medlineplus.gov/dwarfism.html DB - PRIME DP - Unbound Medicine ER -