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Review of published 467 achondroplasia patients: clinical and mutational spectrum.
Zhang X, Jiang S, Zhang R, Guo S, Sheng Q, Wang K, Shan Y, Liao L, Dong J. Zhang X, et al. Orphanet J Rare Dis. 2024 Jan 27;19(1):29. doi: 10.1186/s13023-024-03031-1. Orphanet J Rare Dis. 2024. PMID: 38281003 Free PMC article. Review.
Short stature with shortened arms and legs was found in 112(112/112) patients, the abnormalities of macrocephaly in 94(94/112) patients, frontal bossing in 89(89/112) patients, genu valgum in 64(64/112) patients and trident hand were found in 51(51/112) patients. Th …
Short stature with shortened arms and legs was found in 112(112/112) patients, the abnormalities of macrocephaly in 94(94/112) patients, fro …
Obstetric US: watch the fetal hands.
Rypens F, Dubois J, Garel L, Fournet JC, Michaud JL, Grignon A. Rypens F, et al. Radiographics. 2006 May-Jun;26(3):811-29; discussion 830-1. doi: 10.1148/rg.263055113. Radiographics. 2006. PMID: 16702456 Review.
Hand anomalies are difficult to diagnose and are often overlooked during prenatal ultrasonography (US). The spectrum of malformations varies from subtle finger deformities to the complete amputation of limbs. Malformations of the hand can be classified, according to …
Hand anomalies are difficult to diagnose and are often overlooked during prenatal ultrasonography (US). The spectrum of malformations …
Achondroplasia: Current Options and Future Perspective.
Bouali H, Latrech H. Bouali H, et al. Pediatr Endocrinol Rev. 2015 Jun;12(4):388-95. Pediatr Endocrinol Rev. 2015. PMID: 26182483 Review.
The clinical and radiological features of achondroplasia can easily be identified; they include disproportionate short stature with rhizomelic shortening, macrocephaly with frontal bossing, midface hypoplasia, lumbar hyperlordosis, and a trident hand configuration. …
The clinical and radiological features of achondroplasia can easily be identified; they include disproportionate short stature with rhizomel …
Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations.
Sargar KM, Singh AK, Kao SC. Sargar KM, et al. Radiographics. 2017 Oct;37(6):1813-1830. doi: 10.1148/rg.2017170017. Radiographics. 2017. PMID: 29019756 Review.
Some characteristics and clinical findings include premature fusion of cranial sutures and deviated broad thumbs and toes in PS; premature fusion of cranial sutures and syndactyly of the hands and feet in AS; craniosynostosis, ocular proptosis, and absence of hand and foot …
Some characteristics and clinical findings include premature fusion of cranial sutures and deviated broad thumbs and toes in PS; premature f …