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Orthopaedic manifestations of campomelic dysplasia.
Khoshhal K, Letts RM. Khoshhal K, et al. Clin Orthop Relat Res. 2002 Aug;(401):65-74. doi: 10.1097/00003086-200208000-00010. Clin Orthop Relat Res. 2002. PMID: 12151884 Review.
Campomelic dysplasia is a rare form of congenital dwarfism associated with potentially fatal respiratory insufficiency. ...In an attempt to increase awareness of the presentation of infants with campomelic dysplasia and to emphasize the difficulties of treating associated …
Campomelic dysplasia is a rare form of congenital dwarfism associated with potentially fatal respiratory insufficiency. ...In an atte …
A review of genetics in orthopaedics.
Wynne-Davies R. Wynne-Davies R. Acta Orthop Scand. 1975 Jun;46(3):338-49. Acta Orthop Scand. 1975. PMID: 807081 Review.
Four groups of skeletal dysplasias are briefly described (short-limbed dwarfism, metaphyseal disorders, disorders of increased bone density and the storage diseases). ...
Four groups of skeletal dysplasias are briefly described (short-limbed dwarfism, metaphyseal disorders, disorders of increased bone d …
Unpredictability of hip behavior in Dyggve-Melchior-Clausen syndrome: a mid-term assessment of siblings.
Nectoux E, Hocquet B, Fron D, Mezel A, Paris A, Herbaux B. Nectoux E, et al. Orthop Traumatol Surg Res. 2013 Oct;99(6):745-8. doi: 10.1016/j.otsr.2013.04.006. Epub 2013 Sep 12. Orthop Traumatol Surg Res. 2013. PMID: 24035654 Free article. Review.
Dyggve-Melchior-Clausen syndrome is a rare spondylo-epiphyseal disease, which almost constantly leads to both bilateral hip degeneration and dislocation. Few authors have reported to date the surgical management of this orthopaedic disorder. ...Total hip arth …
Dyggve-Melchior-Clausen syndrome is a rare spondylo-epiphyseal disease, which almost constantly leads to both bilateral hip degenerat …
A novel frameshift mutation of DVL1-induced Robinow syndrome: A case report and literature review.
Hu R, Qiu Y, Li Y, Li J. Hu R, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1886. doi: 10.1002/mgg3.1886. Epub 2022 Feb 9. Mol Genet Genomic Med. 2022. PMID: 35137569 Free PMC article. Review.
The main clinical manifestations included facial dysmorphisms, bilateral dislocation of the hip joint, and hearing impairment. Whole-exome sequencing of the patient's DNA revealed a heterozygous mutation of c.1620delC in DVL1. ...
The main clinical manifestations included facial dysmorphisms, bilateral dislocation of the hip joint, and hearing impairment. …
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Kariminejad A, Afroozan F, Bozorgmehr B, Ghanadan A, Akbaroghli S, Khorram Khorshid HR, Mojahedi F, Setoodeh A, Loh A, Tan YX, Escande-Beillard N, Malfait F, Reversade B, Gardeitchik T, Morava E. Kariminejad A, et al. Int J Mol Sci. 2017 Mar 15;18(3):635. doi: 10.3390/ijms18030635. Int J Mol Sci. 2017. PMID: 28294978 Free PMC article. Review.
These conditions also share additional features, such as short stature, hypotonia, and congenital hip dislocation, but the severity and frequency of these findings are variable in each of these cutis laxa syndromes. ...
These conditions also share additional features, such as short stature, hypotonia, and congenital hip dislocation, but the sev …
[A rare case of Silver-Russell syndrome in adult and literature review].
Lu PY, Gu W, Pang XH, Shan PF. Lu PY, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2015 May;44(3):335-8. doi: 10.3785/j.issn.1008-9292.2015.05.15. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2015. PMID: 26350016 Free PMC article. Review. Chinese.
We reported a 23-year-old female patient with SRS characterized with short body stature, asymmetry, obesity, fifth finger clinodactyly and dislocation of hip. The patient had a past history of lengthening operation on the right lower limb at the age of 10. ...
We reported a 23-year-old female patient with SRS characterized with short body stature, asymmetry, obesity, fifth finger clinodactyly and …