Advertisement

Spondylocostal dysplasia

A dominantly inherited form of short-trunked dwarfism
      This paper is only available as a PDF. To read, Please Download here.

      Abstract

      A kindred is described in which members in four generations were affected with a variety of short-trunked dwarfism, which appears to be inherited as an autosomal dominant trait. This syndrome is characterized by a gross disorder of vertebral segmentation. The number of vertebral segments is reduced and the vertebrae present exhibit a variety of anomalies, including hemivertebrae, “butterfly” vertebrae and fused vertebrae associated with aplasia, hypoplasia and fusion of the ribs. Since the malformations are limited to the vertebral column and ribs, the term “spondylocostal dysplasia” is proposed.
      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to The American Journal of Medicine
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Greulich W.W.
        • Pyle S.I.
        2nd ed. Radiographic Atlas of Skeletal Development of the Hand and Wrist. Stanford University Press, Stanford, Calif1959
        • Hadley L.A.
        Anatomico-Roentgenographic Studies of the Spine.
        Charles C Thomas, Springfield, Ill1964
        • van der Sar A.
        Hereditary multiple hemivertebrae.
        Docum. med. geographica et tropica. 1952; 4: 23
        • Jarcho S.
        • Levin P.M.
        Hereditary malformations of the vertebral bodies.
        Bull. Johns Hopkins Hosp. 1938; 62: 216
        • Lavy N.W.
        • Palmer C.G.
        • Merritt A.D.
        A syndrome of bizarre vertebral anomalies.
        J. Pediat. 1966; 69: 1121
        • Caffey J.
        Pediatric X-Ray Diagnosis.
        in: 5th ed. Year Book Medical Publishers, Chicago1967: 1109
        • Gorlin R.J.
        • Pindborg J.J.
        Syndromes of the Head and Neck.
        McGraw-Hill Book Co, New York1964
        • Larsen L.J.
        • Scottstaedt E.R.
        • Best F.C.
        Multiple congenital dislocations associated with characteristic facial abnormality.
        J. Pediat. 1950; 37: 574
        • Berlin N.I.
        • Van Scott E.J.
        • Clendenning W.E.
        • Archard H.O.
        • Block J.B.
        • Witkop C.J.
        • Haynes H.A.
        Basal cell nevus syndrome.
        Ann. Int. Med. 1966; 64: 403
        • Carney R.G.
        Incontinentia pigmenti. A report of 5 cases and review of the literature.
        Arch. Dermat. & Syph. 1951; 64: 126
        • Willard D.P.
        • Nicholson J.T.
        The Klippel-Feil syndrome.
        Ann. Surg. 1934; 99: 561
        • Weyers H.
        • Thier C.V.
        Malformations mandibulo-faciales et délimitation d'un “syndrome oculo-vertebral”.
        J. Genet. hum. 1958; 7: 143
        • McKusick V.A.
        Heritable Disorders of Connective Tissue.
        3rd ed. C. V. Mosby Co, St. Louis1966