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1975 1
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43 results

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Page 1
Short-limb skeletal dysplasias and craniosynostosis: what do they have in common?
Cohen MM Jr. Cohen MM Jr. Pediatr Radiol. 1997 May;27(5):442-6. doi: 10.1007/s002470050165. Pediatr Radiol. 1997. PMID: 9133360 Review.
Fibroblast growth factor receptor mutations cause some of the main short-limb skeletal dysplasias and craniosynostosis syndromes, including achondroplasia, hypochondroplasia, thanatophoric dysplasia, Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and Jackson-W …
Fibroblast growth factor receptor mutations cause some of the main short-limb skeletal dysplasias and craniosynostosis syndrom …
Achondroplasia.
Horton WA, Hall JG, Hecht JT. Horton WA, et al. Lancet. 2007 Jul 14;370(9582):162-172. doi: 10.1016/S0140-6736(07)61090-3. Lancet. 2007. PMID: 17630040 Review.
Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwide. ...
Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwi …
COMP-Related Pseudoachondroplasia.
Briggs MD, Wright MJ. Briggs MD, et al. 2004 Aug 20 [updated 2023 Nov 30]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2004 Aug 20 [updated 2023 Nov 30]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301660 Free Books & Documents. Review.
Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extre …
Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disp …
Thanatophoric Dysplasia.
French T, Savarirayan R. French T, et al. 2004 May 21 [updated 2023 May 18]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2004 May 21 [updated 2023 May 18]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301540 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the perinatal period. TD is divided into subtypes: TD type 1 is characterized by micromelia with bowed femurs and, uncommonly, the presence of cranios …
CLINICAL CHARACTERISTICS: Thanatophoric dysplasia (TD) is a short-limb skeletal dysplasia that is usually lethal in the perina …
Short limb and the ball-and-socket ankle deformity.
Harris EJ. Harris EJ. J Am Podiatr Med Assoc. 1989 Dec;79(12):595-604. doi: 10.7547/87507315-79-12-595. J Am Podiatr Med Assoc. 1989. PMID: 2696785 Review.
Congenital ball-and-socket ankle deformity is a complex pediatric orthopedic deformity that usually is associated with a short limb, a short fibula, distal tibial dysplasia, rearfoot coalition, and ray deficiency. ...
Congenital ball-and-socket ankle deformity is a complex pediatric orthopedic deformity that usually is associated with a short lim …
Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.
MacDermot KD, Winter RM, Wigglesworth JS, Strobel S. MacDermot KD, et al. J Med Genet. 1991 Jan;28(1):10-7. doi: 10.1136/jmg.28.1.10. J Med Genet. 1991. PMID: 1999827 Free PMC article. Review.
We report two patients with severe combined immunodeficiency and short stature/short limb skeletal dysplasia. Case 1 presented at birth with rhizomelic shortening of the extremities and bowing of the femora. ...These cases belong to early lethal type 1 short …
We report two patients with severe combined immunodeficiency and short stature/short limb skeletal dysplasia. Case 1 presented …
Achondroplasia: Really rhizomelic?
Shelmerdine SC, Brittain H, Arthurs OJ, Calder AD. Shelmerdine SC, et al. Am J Med Genet A. 2016 Aug;170(8):2039-43. doi: 10.1002/ajmg.a.37776. Epub 2016 Jun 3. Am J Med Genet A. 2016. PMID: 27257098
Achondroplasia is the most common form of short limb dwarfism in humans. The shortening of the limb lengths in achondroplasia is widely described as "rhizomelic." ...
Achondroplasia is the most common form of short limb dwarfism in humans. The shortening of the limb lengths in achondroplasia …
Campomelic dwarfism.
Becker MH, Finegold M, Genieser NB, Darling D, Feingold M. Becker MH, et al. Birth Defects Orig Artic Ser. 1975;11(6):113-8. Birth Defects Orig Artic Ser. 1975. PMID: 1103991 Review.
The campomelic syndrome is a short-limb, usually fatal, neonatal dwarfism. It is characterized by bowed lower limbs, especially the tibia, usually associated with a cutaneous dimple over the anterior skin. ...
The campomelic syndrome is a short-limb, usually fatal, neonatal dwarfism. It is characterized by bowed lower limbs, especiall …
PTH1R-Related Jansen Metaphyseal Chondrodysplasia.
Obiezu F, Boyce A, Jüppner H, Jha S. Obiezu F, et al. 2025 Jul 10. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2025 Jul 10. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 40638774 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: PTH1R-related Jansen metaphyseal chondrodysplasia (PTH1R-JMC) is characterized by short-limb short stature with swelling of the joints in the extremities, bowing of the lower extremities, mild-to-severe scoliosis, hypercalcemia with …
CLINICAL CHARACTERISTICS: PTH1R-related Jansen metaphyseal chondrodysplasia (PTH1R-JMC) is characterized by short-limb shor …
43 results