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Page 1
Sclerosing bone dysplasias--a target-site approach.
Greenspan A. Greenspan A. Skeletal Radiol. 1991;20(8):561-83. doi: 10.1007/BF01106087. Skeletal Radiol. 1991. PMID: 1776023 Review.
The list of conditions constituting this group is relatively short: osteopetrosis (Albers-Schonberg disease), pycnodysostosis (Maroteaux-Lamy disease), enostosis (bone island), osteopoikilosis, osteopathia striata (Voorhoeve disease), progressive diaphyseal dysplasia …
The list of conditions constituting this group is relatively short: osteopetrosis (Albers-Schonberg disease), pycnodysostosis (Maroteaux-Lam …
The Erlenmeyer flask bone deformity in the skeletal dysplasias.
Faden MA, Krakow D, Ezgu F, Rimoin DL, Lachman RS. Faden MA, et al. Am J Med Genet A. 2009 Jun;149A(6):1334-45. doi: 10.1002/ajmg.a.32253. Am J Med Genet A. 2009. PMID: 19444897 Free PMC article. Review.
EFD-T was identified in: frontometaphyseal dysplasia, craniometaphyseal dysplasia, craniodiaphyseal dysplasia, diaphyseal dysplasia-Engelmann type, metaphyseal dysplasia-Pyle type, Melnick-Needles osteodysplasty, and otopalatodigital syndrome type I. ...
EFD-T was identified in: frontometaphyseal dysplasia, craniometaphyseal dysplasia, craniodiaphyseal dysplasia, diaphyseal dysplasi …
Sclerosing bone dysplasias: genetic and radioclinical features.
Vanhoenacker FM, De Beuckeleer LH, Van Hul W, Balemans W, Tan GJ, Hill SC, De Schepper AM. Vanhoenacker FM, et al. Eur Radiol. 2000;10(9):1423-33. doi: 10.1007/s003300000495. Eur Radiol. 2000. PMID: 10997431 Review.
Within each group, further differentiation can be made by distinctive clinical findings and by mode of inheritance: (a) dysplasias of endochondral bone formation: osteopetrosis (Albers-Schonberg disease), pycnodysostosis, enostosis, osteopoikilosis, osteopathia striata (Voorhoeve …
Within each group, further differentiation can be made by distinctive clinical findings and by mode of inheritance: (a) dysplasias of endoch …
Progressive diaphyseal dysplasia (Camurati-Engelmann): radiographic follow-up and CT findings.
Kaftori JK, Kleinhaus U, Naveh Y. Kaftori JK, et al. Radiology. 1987 Sep;164(3):777-82. doi: 10.1148/radiology.164.3.3615880. Radiology. 1987. PMID: 3615880
Sixteen patients with progressive diaphyseal dysplasia (PDD) and aged six months to 76 years were examined. ...
Sixteen patients with progressive diaphyseal dysplasia (PDD) and aged six months to 76 years were examined. ...
Cranio-meta-diaphyseal dysplasia: 25 year follow-up and review of literature.
Dhar SU, Taylor T, Trinh C, Sutton VR. Dhar SU, et al. Am J Med Genet A. 2010 Sep;152A(9):2335-8. doi: 10.1002/ajmg.a.33582. Am J Med Genet A. 2010. PMID: 20684007 Review.
We report here on a 25-year follow-up of cranio-meta-diaphyseal dysplasia in a 31-year-old Caucasian male, who was reported in the literature at the age of 8 years [Langer et al. (1991); Skeletal Radiol 20:37-41]. ...
We report here on a 25-year follow-up of cranio-meta-diaphyseal dysplasia in a 31-year-old Caucasian male, who was reported in …
Diaphyseal dysplasia associated with anemia.
Ghosal SP, Mukherjee AK, Mukherjee D, Ghosh AK. Ghosal SP, et al. J Pediatr. 1988 Jul;113(1 Pt 1):49-57. doi: 10.1016/s0022-3476(88)80527-4. J Pediatr. 1988. PMID: 3385529
Five patients in early childhood had moderate to marked anemia and clinically demonstrable thick long bones of the extremities with radiologic features of diaphyseal dysplasia. Although the anemia was persistent and not responsive to hematinics, prednisolone was adm …
Five patients in early childhood had moderate to marked anemia and clinically demonstrable thick long bones of the extremities with radiolog …
Total knee arthroplasty in a patient with Hardcastle syndrome.
Jamil W, Allami MK, Mbakada N, Kluge W. Jamil W, et al. Orthopedics. 2009 Dec;32(12):916. doi: 10.3928/01477447-20091020-20. Orthopedics. 2009. PMID: 19968223
Our case demonstrates pathological and radiological signs of skull involvement, which has not previously been reported in the literature as a manifestation of this condition. We discuss the differential diagnoses of diaphyseal dysplasia that should be considered in …
Our case demonstrates pathological and radiological signs of skull involvement, which has not previously been reported in the literature as …
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K. Kinoshita A, et al. Nat Genet. 2000 Sep;26(1):19-20. doi: 10.1038/79128. Nat Genet. 2000. PMID: 10973241
Camurati-Engelmann disease (CED, MIM 131300) is an autosomal dominant, progressive diaphyseal dysplasia characterized by hyperosteosis and sclerosis of the diaphyses of long bones. ...
Camurati-Engelmann disease (CED, MIM 131300) is an autosomal dominant, progressive diaphyseal dysplasia characterized by hyper …
Scintigraphic evaluation of pamidronate and corticosteroid therapy in a patient with progressive diaphyseal dysplasia (Camurati-Engelmann disease).
Inaoka T, Shuke N, Sato J, Ishikawa Y, Takahashi K, Aburano T, Makita Y. Inaoka T, et al. Clin Nucl Med. 2001 Aug;26(8):680-2. doi: 10.1097/00003072-200108000-00003. Clin Nucl Med. 2001. PMID: 11452173
A 27-year-old woman with progressive diaphyseal dysplasia (Camurati-Engelmann disease) received pamidronate and corticosteroid therapy for bone pain. ...
A 27-year-old woman with progressive diaphyseal dysplasia (Camurati-Engelmann disease) received pamidronate and corticosteroid …
14 results