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Page 1
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.
Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E. Leal GF, et al. J Bone Miner Res. 2018 Apr;33(4):753-760. doi: 10.1002/jbmr.3348. Epub 2018 Jan 4. J Bone Miner Res. 2018. PMID: 29178448 Free article.
Other features ranged from prenatal lethal severe angulation of the long bones as in kyphomelic dysplasia and mesomelic dysplasia Kozlowski-Reardon through classical Bruck syndrome to moderate OI with normal joints. Two siblings with a kyphomelic dysplasia …
Other features ranged from prenatal lethal severe angulation of the long bones as in kyphomelic dysplasia and mesomelic dyspla …
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.
Itai T, Wang Z, Nishimura G, Ohashi H, Guo L, Wakano Y, Sugiura T, Hayakawa H, Okada M, Saisu T, Kitta A, Doi H, Kurosawa K, Hotta Y, Hosono K, Sato M, Shimizu K, Takikawa K, Watanabe S, Ikeda N, Suzuki M, Fujita A, Uchiyama Y, Tsuchida N, Miyatake S, Miyake N, Matsumoto N, Ikegawa S. Itai T, et al. Clin Genet. 2022 Jul;102(1):3-11. doi: 10.1111/cge.14133. Epub 2022 Apr 5. Clin Genet. 2022. PMID: 35342932
Kyphomelic dysplasia is a heterogeneous group of skeletal dysplasias characterized by severe bowing of the limbs associated with other variable findings, such as narrow thorax and abnormal facies. We searched for the genetic etiology of this disorder. Four individua …
Kyphomelic dysplasia is a heterogeneous group of skeletal dysplasias characterized by severe bowing of the limbs associated wi …
Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia.
Prasad C, Cramer BC, Pushpanathan C, Crowley MC, Ives EJ. Prasad C, et al. Clin Genet. 2000 Nov;58(5):390-5. doi: 10.1034/j.1399-0004.2000.580510.x. Clin Genet. 2000. PMID: 11140840 Review.
Kyphomelic dysplasia is a rare form of generalized skeletal dysplasia with about 15 cases described so far in the literature. ...The differential diagnoses of prenatal and perinatal semilethal skeletal dysplasias and salient features of documented cases of kyphom …
Kyphomelic dysplasia is a rare form of generalized skeletal dysplasia with about 15 cases described so far in the literature. …
Kyphomelic dysplasia: clinical and radiologic long-term follow-up of one case and review of the literature.
Pallotta R, Ehresmann T, Roggini M, Fusilli P. Pallotta R, et al. Radiology. 1999 Sep;212(3):847-52. doi: 10.1148/radiology.212.3.r99au04847. Radiology. 1999. PMID: 10478256 Review.
The authors describe the 17-year follow-up of the (to their knowledge) only adult and only female patient affected with kyphomelic dysplasia so far described in the literature, with assessment of the phenotypic, orthopedic, and radiologic progression of this syndrom …
The authors describe the 17-year follow-up of the (to their knowledge) only adult and only female patient affected with kyphomelic …
Prenatal diagnosis of kyphomelic dysplasia.
Guala A, Biroli E, Bassini P, Botta G, Licata D, Di Cara G, Franceschini D, Franceschini P. Guala A, et al. Prenat Diagn. 2001 Dec;21(13):1146-9. Prenat Diagn. 2001. PMID: 11787041
Kyphomelic dysplasia (KD) is a rare autosomal recessive entity characterized by disproportionate dwarfism with shortening and bowing of the limbs, narrow chest, 11 ribs and metaphyseal flaring. ...
Kyphomelic dysplasia (KD) is a rare autosomal recessive entity characterized by disproportionate dwarfism with shortening and …
Lethal kyphomelic dysplasia.
Cisarik F, Baxova A, Kozlowski K. Cisarik F, et al. J Paediatr Child Health. 1996 Apr;32(2):188-90. doi: 10.1111/j.1440-1754.1996.tb00920.x. J Paediatr Child Health. 1996. PMID: 9156533
A lethal form of kyphomelic dysplasia with severe bowing of the long bones of the lower extremities is reported....
A lethal form of kyphomelic dysplasia with severe bowing of the long bones of the lower extremities is reported....
Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease.
Spranger J, Hall BD, Häne B, Srivastava A, Stevenson RE. Spranger J, et al. Am J Med Genet. 2000 Oct 2;94(4):287-95. doi: 10.1002/1096-8628(20001002)94:4<287::aid-ajmg5>3.0.co;2-g. Am J Med Genet. 2000. PMID: 11038441
Follow-up and re-evaluation of four patients originally described as examples of severe infantile "micromelic chondrodysplasia" resembling Kniest disease, "kyphomelic dysplasia," and "Burton skeletal dysplasia" revealed the diagnosis of Schwartz-Jampel syndrome (SJS …
Follow-up and re-evaluation of four patients originally described as examples of severe infantile "micromelic chondrodysplasia" resembling K …
Variability in kyphomelic dysplasia.
Cisarik F, Kozlowski K, Masel J, Sillence D. Cisarik F, et al. Pediatr Radiol. 1999 Jul;29(7):551-7. doi: 10.1007/s002470050644. Pediatr Radiol. 1999. PMID: 10398797
Four infants with kyphomelic dysplasia ascertained from three families demonstrate variability within the syndrome. ...In the second family, with a male affected with the 'typical findings' of lethal kyphomelic dysplasia, diagnosis of a skeletal dyspla …
Four infants with kyphomelic dysplasia ascertained from three families demonstrate variability within the syndrome. ...In the …
The scapula as a window to the diagnosis of skeletal dysplasias.
Mortier GR, Rimoin DL, Lachman RS. Mortier GR, et al. Pediatr Radiol. 1997 May;27(5):447-51. doi: 10.1007/s002470050166. Pediatr Radiol. 1997. PMID: 9133361
Hypoplasia of the body of the scapula, which is characteristic for campomelic dysplasia but not for kyphomelic dysplasia, is also present in Antley-Bixler syndrome. Radiographic and clinical similarities between campomelic dysplasia and Antley-Bixler syndrome sugges …
Hypoplasia of the body of the scapula, which is characteristic for campomelic dysplasia but not for kyphomelic dysplasia, is a …
Kyphomelic dysplasia: the first 10 cases.
Turnpenny PD, Dakwar RA, Boulos FN. Turnpenny PD, et al. J Med Genet. 1990 Apr;27(4):269-72. doi: 10.1136/jmg.27.4.269. J Med Genet. 1990. PMID: 2109078 Free PMC article.
We report two sibs, the ninth and tenth cases of a distinctive familial skeletal dysplasia. Designated kyphomelic dysplasia, the condition is a short limbed dwarfism characterised by very short angulated femora, variable bowing of other long bones, irregular, flared …
We report two sibs, the ninth and tenth cases of a distinctive familial skeletal dysplasia. Designated kyphomelic dysplasia, t …
14 results