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2. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology. Borochowitz Z, Langer LO, Gruber HE, Lachman R, Katznelson MB, Rimoin DL. Am J Med Genet; 1993 Feb 01; 45(3):320-6. PubMed ID: 8434618 [Abstract] [Full Text] [Related]
3. Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. Franceschini P, Testa A, Bogetti G, Girardo E, Guala A, Lopez-Bell G, Buzio G, Ferrario E, Piccato E. Am J Med Genet; 1992 Jan 01; 42(1):112-6. PubMed ID: 1308349 [Abstract] [Full Text] [Related]
4. Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome. Miny P, Lenz W. Am J Med Genet; 1985 Jun 01; 21(2):317-24. PubMed ID: 4014313 [Abstract] [Full Text] [Related]
5. Short rib-polydactyly syndrome, Majewski type. Chen H, Yang SS, Gonzalez E, Fowler M, Al Saadi A. Am J Med Genet; 1980 Jun 01; 7(2):215-22. PubMed ID: 7468649 [Abstract] [Full Text] [Related]
6. A distinct skeletal dysplasia in an infant from consanguineous parents. Cantú JM, Manzano C, Pagán P, García-Cruz D, Hernández A. Birth Defects Orig Artic Ser; 1977 Jun 01; 13(3B):139-47. PubMed ID: 890089 [Abstract] [Full Text] [Related]
7. Parental consanguinity in two sibs with omodysplasia. Baxová A, Maroteaux P, Barosová J, Netriová I. Am J Med Genet; 1994 Feb 01; 49(3):263-5. PubMed ID: 8209882 [Abstract] [Full Text] [Related]
8. Campomelic dysplasia. Further elucidation of a distinct entity. Hall BD, Spranger JW. Am J Dis Child; 1980 Mar 01; 134(3):285-9. PubMed ID: 7361736 [Abstract] [Full Text] [Related]
9. Familial congenital micromelic dysplasia with dislocation of radius and distinct face: a new skeletal dysplasia syndrome. Borochowitz Z, Barak M, Hershkowitz S. Am J Med Genet; 1991 Apr 01; 39(1):91-6. PubMed ID: 1867270 [Abstract] [Full Text] [Related]
10. A new short rib syndrome: report of two cases. Beemer FA, Langer LO, Klep-de Pater JM, Hemmes AM, Bylsma JB, Pauli RM, Myers TL, Haws CC. Am J Med Genet; 1983 Jan 01; 14(1):115-23. PubMed ID: 6829599 [Abstract] [Full Text] [Related]
11. Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia. Chemke J, Carmi R, Galil A, Bar-Ziv Y, Ben-Ytzhak I, Zurkowski L. Am J Med Genet; 1992 Aug 01; 43(6):989-95. PubMed ID: 1415350 [Abstract] [Full Text] [Related]
12. Spondylometaphyseal dysplasia in two sibs of normal parents. Gustavson KH, Holmgren G, Probst F. Pediatr Radiol; 1978 Jun 19; 7(2):90-6. PubMed ID: 673535 [Abstract] [Full Text] [Related]
13. Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance. Van Maldergem L, Gillerot Y, Godhaird M, Nemec E, Koulischer L. Clin Genet; 1990 Nov 19; 38(5):359-61. PubMed ID: 2282715 [Abstract] [Full Text] [Related]
14. Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips. Mortier GR, Kramer PP, Giedion A, Beemer FA. J Med Genet; 2003 Mar 19; 40(3):201-7. PubMed ID: 12624140 [No Abstract] [Full Text] [Related]
18. The SPONASTRIME dysplasia: familial short-limb dwarfism with saddle nose, spinal alterations and metaphyseal striation. Report of 4 siblings. Fanconi S, Issler C, Giedion A, Prader A. Helv Paediatr Acta; 1983 Aug 19; 38(3):267-80. PubMed ID: 6618893 [Abstract] [Full Text] [Related]
19. Parental consanguinity and the Majewski syndrome. Black IL, Fitzsimmons J, Fitzsimmons E, Thomas AJ. J Med Genet; 1982 Apr 19; 19(2):141-3. PubMed ID: 7077625 [Abstract] [Full Text] [Related]
20. A case report on autosomal recessive Robinow syndrome. Eronat N, Cogulu D, Ozkinay F. Eur J Paediatr Dent; 2009 Sep 19; 10(3):147-50. PubMed ID: 19761290 [Abstract] [Full Text] [Related] Page: [Next] [New Search]