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5. Prenatal sonographic evaluation of short-limbed dwarfism: an algorithmic approach. Spirt BA; Oliphant M; Gottlieb RH; Gordon LP Radiographics; 1990 Mar; 10(2):217-36. PubMed ID: 2183297 [TBL] [Abstract][Full Text] [Related]
6. Association of kyphomelic dysplasia with severe combined immunodeficiency. Corder WT; Hummel M; Miller C; Wilson NW Am J Med Genet; 1995 Jul; 57(4):626-9. PubMed ID: 7573142 [TBL] [Abstract][Full Text] [Related]
8. [Asphyxiating thoracic dysplasia (Jeune syndrome): about two cases]. Harou K; L'Hermite M J Gynecol Obstet Biol Reprod (Paris); 2010 Apr; 39(2):163-7. PubMed ID: 19853385 [TBL] [Abstract][Full Text] [Related]
9. Micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects. Fryns JP; Lorenzetti ME; Maroteaux P; Van den Berghe H Am J Med Genet; 1996 Jan; 61(2):164-7. PubMed ID: 8669445 [TBL] [Abstract][Full Text] [Related]
10. A unique presentation of immuno-osseous dysplasia. Hubbard V; Sahota A; Callahan B; Carr S; Paige D Pediatr Dermatol; 2006; 23(4):373-7. PubMed ID: 16918637 [TBL] [Abstract][Full Text] [Related]
11. Lethal short-limbed chondrodysplasia in early infancy. Yang SS; Heidelberger KP; Brough AJ; Corbett DP; Bernstein J Perspect Pediatr Pathol; 1976; 3():1-40. PubMed ID: 972830 [TBL] [Abstract][Full Text] [Related]
12. A family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance? Farag TI; Al-Awadi SA; Hunt MC; Satyanath S; Zahran M; Usha R; Uma R J Med Genet; 1987 Oct; 24(10):597-601. PubMed ID: 3681904 [TBL] [Abstract][Full Text] [Related]
13. [A case of motor and sensory neuropathy associated with metatropic dysplasia]. Yamashita S; Izawa T; Misugi N; Sasaki Y No To Hattatsu; 1994 May; 26(3):258-62. PubMed ID: 8185980 [TBL] [Abstract][Full Text] [Related]
14. Intrauterine diagnosis of short-limbed dwarfism. Hsieh FJ; Jou HJ; Ko TM; Chen HY Taiwan Yi Xue Hui Za Zhi; 1989 Oct; 88(10):1032-7. PubMed ID: 2699492 [TBL] [Abstract][Full Text] [Related]
15. Acromesomelic dysplasia with cardiac and neurologic abnormalities: an association by chance, new features of maroteaux type or a new syndrome? Kurt F; Ceylaner S; Yakut HI Genet Couns; 2013; 24(1):75-80. PubMed ID: 23610868 [TBL] [Abstract][Full Text] [Related]
16. 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 J Med Genet; 1991 Jan; 28(1):10-7. PubMed ID: 1999827 [TBL] [Abstract][Full Text] [Related]
18. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease. Spranger J; Hall BD; Häne B; Srivastava A; Stevenson RE Am J Med Genet; 2000 Oct; 94(4):287-95. PubMed ID: 11038441 [TBL] [Abstract][Full Text] [Related]
19. Kyphomelic dysplasia: a report of a family with an autosomal dominant pattern. Toledo C; Navarro-Barros R; Alba L; Muñoz E Ann Genet; 1999; 42(3):170-3. PubMed ID: 10526661 [TBL] [Abstract][Full Text] [Related]
20. A severe infantile micromelic chondrodysplasia which resembles Kniest disease. Langer LO; Gonzalez-Ramos M; Chen H; Espiritu CE; Courtney NW; Opitz JM Eur J Pediatr; 1976 Aug; 123(1):29-38. PubMed ID: 989037 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]