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Adult Chinese twins with Kenny-Caffey syndrome type 2: A potential age-dependent phenotype and review of literature.
Cheng SSW, Chan PKJ, Luk HM, Mok MT, Lo IFM. Cheng SSW, et al. Am J Med Genet A. 2021 Feb;185(2):636-646. doi: 10.1002/ajmg.a.61991. Epub 2020 Dec 1. Am J Med Genet A. 2021. PMID: 33263187 Review.
Kenny-Caffey syndrome (KCS) type 2 (OMIM 127000) is a rare syndromic cause of hypoparathyroidism which is characterized by proportionate short stature, long bone abnormalities, delayed closure of anterior fontanelle, eye abnormalities, and normal intel …
Kenny-Caffey syndrome (KCS) type 2 (OMIM 127000) is a rare syndromic cause of hypoparathyroidism which is characterized by proportionate sho …
[Rickets-like genetic diseases].
Ma HW. Ma HW. Zhongguo Dang Dai Er Ke Za Zhi. 2013 Nov;15(11):923-7. Zhongguo Dang Dai Er Ke Za Zhi. 2013. PMID: 24229581 Free article. Review. Chinese.
This paper summarizes the clinical features, causative genes and treatment progress of patients with rickets-like genetic diseases, including X-linked hypophosphatemic rickets (XLH), hypophosphatasia, achondroplasia, vitamin D-dependent rickets, pycnodysostosis and ectodermal dys …
This paper summarizes the clinical features, causative genes and treatment progress of patients with rickets-like genetic diseases, includin …
Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2).
Chen X, Zou C. Chen X, et al. Mol Genet Genomic Med. 2024 Apr;12(4):e2433. doi: 10.1002/mgg3.2433. Mol Genet Genomic Med. 2024. PMID: 38591167 Free PMC article. Review.
Clinical manifestations included ocular defects such as hypermetropia (5/8), dental problems such as defective dentition (3/8) and dental caries (3/8), skeletal and brain anomalies such as delayed closure of anterior fontanelle (6/8), cerebral calcific …
Clinical manifestations included ocular defects such as hypermetropia (5/8), dental problems such as defective dentition (3/8) and dental ca …
[Kenny-Caffey syndrome and its related syndromes].
Isojima T, Kitanaka S. Isojima T, et al. Nihon Rinsho. 2015 Nov;73(11):1959-64. Nihon Rinsho. 2015. PMID: 26619675 Review. Japanese.
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 hypoparathyroid …
Kenny-Caffey syndrome (KCS) is a very rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and med …
Correction of depressed forehead with BoneSource in cleidocranial dysplasia.
Kang N, Kim SZ, Jung SN. Kang N, et al. J Craniofac Surg. 2009 Mar;20(2):564-6. doi: 10.1097/SCS.0b013e31819ba361. J Craniofac Surg. 2009. PMID: 19305258 Review.
We report a 19-year-old woman with opened metopic and sagittal sutures and delayed closure of the anterior fontanelle. Through bicoronal incision and pericranial elevation, the defect was fully exposed. BoneSource was used to fill the cranial de …
We report a 19-year-old woman with opened metopic and sagittal sutures and delayed closure of the anterior fontanell
[Cleidocranial dysplasia: a case report].
Kanda M, Kabe S, Kanki T, Sato J, Hasegawa Y. Kanda M, et al. No Shinkei Geka. 1997 Dec;25(12):1109-13. No Shinkei Geka. 1997. PMID: 9430147 Review. Japanese.
The clavicles also showed undue mobility. Radiological investigations of the cranial skeletal abnormalities revealed enlargement of the sagittal and metopic sutures, and the anterior and posterior fontanelles. ...Although psychosocial disorders associated wit …
The clavicles also showed undue mobility. Radiological investigations of the cranial skeletal abnormalities revealed enlargement of t …