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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 abnorm …
Some characteristics and clinical findings include premature fusion of cranial sutures and deviated broad thumbs and toes in PS; premature f …
Murine models of human genetic skeletal disorders.
Li Y, Olsen BR. Li Y, et al. Matrix Biol. 1997 May;16(2):49-52. doi: 10.1016/s0945-053x(97)90071-8. Matrix Biol. 1997. PMID: 9205941 Review.
This is also true for the three "classical" mouse mutants chondrodysplasia (cho), disproportionate micromelia (Dmm) and cartilage matrix deficiency (cmd). In the three strains, mutations in alpha 1(XI) collagen, alpha 1(II) collagen or aggrecan lead to severe defects in th …
This is also true for the three "classical" mouse mutants chondrodysplasia (cho), disproportionate micromelia (Dmm) and cartilage mat …
Dyssegmental dysplasia, Silverman-Handmaker type: unexpected role of perlecan in cartilage development.
Arikawa-Hirasawa E, Wilcox WR, Yamada Y. Arikawa-Hirasawa E, et al. Am J Med Genet. 2001 Winter;106(4):254-7. doi: 10.1002/ajmg.10229. Am J Med Genet. 2001. PMID: 11891676 Review.
Dyssegmental dysplasia, Silverman-Handmaker type (DDSH), is a lethal autosomal recessive form of dwarfism with characteristic anisospondylic micromelia. The remarkable similarities in the radiographic, clinical, and chondroosseous morphology of DDSH patients to those of pe …
Dyssegmental dysplasia, Silverman-Handmaker type (DDSH), is a lethal autosomal recessive form of dwarfism with characteristic anisospondylic …
Recessive omodysplasia: five new cases and review of the literature.
Elçioglu NH, Gustavson KH, Wilkie AO, Yüksel-Apak M, Spranger JW. Elçioglu NH, et al. Pediatr Radiol. 2004 Jan;34(1):75-82. doi: 10.1007/s00247-003-1064-9. Epub 2003 Oct 18. Pediatr Radiol. 2004. PMID: 14566439 Review.
BACKGROUND: Autosomal recessive omodysplasia (MIM 258315) is a rare skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. ...
BACKGROUND: Autosomal recessive omodysplasia (MIM 258315) is a rare skeletal dysplasia characterized by severe congenital micromelia …
Radiological features in Brachmann-de Lange syndrome.
Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB, Cunniff C, Graham JM Jr. Braddock SR, et al. Am J Med Genet. 1993 Nov 15;47(7):1006-13. doi: 10.1002/ajmg.1320470714. Am J Med Genet. 1993. PMID: 8291513 Review.
Brachmann-de Lange syndrome (BDLS) is a well-delineated disorder consisting variably of pre- and postnatal growth deficiency, microbrachycephaly, characteristic face, hypertrichosis, visceral anomalies, and limb defects consisting primarily of variable limb reduction defects, …
Brachmann-de Lange syndrome (BDLS) is a well-delineated disorder consisting variably of pre- and postnatal growth deficiency, microbrachycep …
Collodion baby concomitant with congenital hypothyroidism: a patient report and review of the literature.
Kurtoğlu S, Caksen H, Erdoğan R, Kisaarslan AF. Kurtoğlu S, et al. J Pediatr Endocrinol Metab. 1998 Jul-Aug;11(4):569-73. doi: 10.1515/jpem.1998.11.4.569. J Pediatr Endocrinol Metab. 1998. PMID: 9777579 Review.
Although it has been reported that harlequin fetus is associated with kidney abnormalities, malignant keratoma, micromelia, polydactyly, thymic atrophy and thyroid aplasia, there are few reports of collodion baby associated with congenital abnormality and/or disease in the …
Although it has been reported that harlequin fetus is associated with kidney abnormalities, malignant keratoma, micromelia, polydacty …
Prenatal diagnosis of a 'minor' form of Brachmann-de Lange syndrome by three-dimensional sonography and three-dimensional computed tomography.
Le Vaillant C, Quere MP, David A, Berlivet M, Boog G. Le Vaillant C, et al. Fetal Diagn Ther. 2004 Mar-Apr;19(2):155-9. doi: 10.1159/000075141. Fetal Diagn Ther. 2004. PMID: 14764961 Review.
The authors describe the prenatal sonographic pattern of Brachmann-de Lange syndrome suspected at 20 weeks of gestation, with severe intrauterine growth retardation, facial dysmorphism, cardiac abnormality, and micromelia without the typical defects of the upper limbs. Fet …
The authors describe the prenatal sonographic pattern of Brachmann-de Lange syndrome suspected at 20 weeks of gestation, with severe intraut …