Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 1
1999 1
2000 1
2001 1
2004 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year

Filters applied: . Clear all
Page 1
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
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].
Iwasaki K. Iwasaki K. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):62-3. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528928 Review. Japanese. No abstract available.
New insights in congenital bowing of the femora.
Cormier-Daire V, Geneviève D, Munnich A, Le Merrer M. Cormier-Daire V, et al. Clin Genet. 2004 Sep;66(3):169-76. doi: 10.1111/j.0009-9163.2004.00307.x. Clin Genet. 2004. PMID: 15324311 Review.
The aim of this study is to review the clinical, radiological and molecular findings of the bent bone dysplasia group including Stuve-Wiedemann syndrome due to LIFR mutations, Compomelic dysplasia due to SOX9 mutations and Kyphomelic dysplasia with no known molecula …
The aim of this study is to review the clinical, radiological and molecular findings of the bent bone dysplasia group including Stuve-Wiedem …
Kyphomelic dysplasia in two sib fetuses.
Chen CP, Chern SR, Shih SL, Chuang CY, Huang FY. Chen CP, et al. J Med Genet. 1998 Jan;35(1):65-9. doi: 10.1136/jmg.35.1.65. J Med Genet. 1998. PMID: 9475099 Free PMC article. Review.
We present the in utero appearances and postmortem radiographic findings of two sib fetuses, a male and a female, with features suggestive of kyphomelic dysplasia. The fetuses had severe bowing of the long bones, short, flared ribs, platyspondyly, metaphyseal flarin …
We present the in utero appearances and postmortem radiographic findings of two sib fetuses, a male and a female, with features suggestive o …