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Quoted phrase not found in phrase index: "Thoracic platyspondyly"
Page 1
Kyphomelic dysplasia.
Temple IK, Thompson EM, Hall CM, Bridgeman G, Pembrey ME. Temple IK, et al. J Med Genet. 1989 Jul;26(7):457-61. doi: 10.1136/jmg.26.7.457. J Med Genet. 1989. PMID: 2746619 Free PMC article.
The most striking feature of this recessively inherited generalised bone dysplasia is marked angulation of the femora, associated with short stature, bowing and shortening of other long bones, metaphyseal changes in infancy, flared ribs, small thoracic cage, and platyspond …
The most striking feature of this recessively inherited generalised bone dysplasia is marked angulation of the femora, associated with short …
Dual-Energy X-ray Absorptiometry Predictors of Vertebral Deformities in Beta-Thalassemia Major.
Osella G, Priola AM, Priola SM, Piga A, Longo F, Ventura M, Bentivegna G, Angeli A, Veltri A, Terzolo M. Osella G, et al. J Clin Densitom. 2018 Oct-Dec;21(4):507-516. doi: 10.1016/j.jocd.2017.06.028. Epub 2017 Jul 27. J Clin Densitom. 2018. PMID: 28756994 Free article.
We performed a retrospective cross-sectional study to investigate the prevalence of vertebral deformities in thalassemic patients and to identify their best dual-energy X-ray absorptiometry (DXA) predictor among trabecular bone score (TBS), bone mineral density (BMD), and …
We performed a retrospective cross-sectional study to investigate the prevalence of vertebral deformities in thalassemic patients and to ide …
Skeletal dysplasias: 38 prenatal cases.
Witters I, Moerman P, Fryns JP. Witters I, et al. Genet Couns. 2008;19(3):267-75. Genet Couns. 2008. PMID: 18990981
In 27 cases a lethal skeletal dysplasia was present (71%) and these were all correctly predicted. Of the lethal skeletal dysplasias 5 cases were diagnosed only after 24 weeks of pregnancy (19%) and 3 were only referred after 30 weeks (11.5%). ...A correct antenatal diagnos …
In 27 cases a lethal skeletal dysplasia was present (71%) and these were all correctly predicted. Of the lethal skeletal dysplasias 5 …
Sib pair with previously unreported skeletal dysplasia.
Mégarbané A, Dagher R, Melki I. Mégarbané A, et al. Am J Med Genet A. 2008 Nov 15;146A(22):2916-9. doi: 10.1002/ajmg.a.32540. Am J Med Genet A. 2008. PMID: 18925669
We report on a consanguineous Lebanese family in which a sister and brother had developmental delay, dysmorphic facial appearance, narrow chest, prominent abdomen, and short limbs. Neonatal radiographs disclosed a bell-shaped thorax, short ribs, some with a cupped end, sev …
We report on a consanguineous Lebanese family in which a sister and brother had developmental delay, dysmorphic facial appearance, narrow ch …
New form of platyspondylic lethal chondrodysplasia.
Akaba K, Nishimura G, Hashimoto M, Wakabayashi T, Kanasugi H, Hayasaka K. Akaba K, et al. Am J Med Genet. 1996 Dec 30;66(4):464-7. doi: 10.1002/(SICI)1096-8628(19961230)66:4<464::AID-AJMG16>3.0.CO;2-S. Am J Med Genet. 1996. PMID: 8989469
The cardinal clinical manifestations consisted of frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia. Laryngoscopy and neck CT disclosed laryngeal stenosis, and brain CT demonstrated hypoplasia of the corpus ca …
The cardinal clinical manifestations consisted of frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax …
Thanatophoric dysplasia type 1 with cloverleaf skull in a dichorionic twin.
Salinas-Torres VM. Salinas-Torres VM. Genet Couns. 2015;26(1):61-5. Genet Couns. 2015. PMID: 26043509
The patient's main clinical and radiographic findings included severe limb shortening, narrow thorax shape; short ribs, marked platyspondyly, curved short femurs, and a cloverleaf skull. ...
The patient's main clinical and radiographic findings included severe limb shortening, narrow thorax shape; short ribs, marked platys …