Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia

European Journal of Pediatrics

Volumn 156, Issue 3, 1997, Pages 214-223

  Giedion, A ^e   Boltshauser, E ^e   Briner, J ^a   Eich, G ^e   Exner, G ^b   Fendel, H ^c   Kaufmann, L ^e   Steinmann, B ^e   Spranger, J ^d   Superti Furga, A ^e  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d JOHANNES GUTENBERG UNIVERSITY   (Germany)

^e UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Genetic linkage; Myotonia; Osteochondrodysplasia; Schwartz Jampel syndrome; Short stature

Indexed keywords

ARTICLE; BONE DYSPLASIA; CHROMOSOME 1P; CLINICAL ARTICLE; FEMALE; GENETIC LINKAGE; HUMAN; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHWARTZ JAMPEL SYNDROME; SHORT STATURE;

ADOLESCENT; BONE AND BONES; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; FOLLOW-UP STUDIES; HETEROZYGOTE DETECTION; HUMANS; INFANT; INFANT, NEWBORN; LINKAGE (GENETICS); MALE; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHENOTYPE;

EID: 8044242330     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050587     Document Type: Article

References (28)

1. Aberfeld DC, Hinterbuchner LP, Schneider M (1965) Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome). Brain 88:313-322
2. Al-Gazali LI (1993) The Schwartz-Jampel syndrome. Clin Dysmorphol 2:47-54
3. Al-Gazali LI Varghese M, Varady E, Al Talabani J, Scorer J, Bakalinova D (1996) Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates. J Med Genet 33:203-211
4. Burton BK, Sumner T, Langer LO, Rimoin DL, Adomian GE, Lachman RS, Nocastro JE, Kelly DL, Weaver RG (1986) A new skeletal dysplasia: Clinical, radiologic, and pathologic findings. J Pediatr 109:642-648
5. Cadilhac J, Baldet P, Greze J, Duday H (1975) EMG studies of two family cases of the Schwartz and Jampel syndrome. Electromyogr Clin Neurophysiol 15:5-12
6. Calzolari C, Vichi GE, Pacini M, Giovannucci ML, Marconi G, Bani Sacchi T, Granelli L (1982) Sindrome di Schwartz-Jampel con singolari alterzioni scheletriche. Riv Ital Pediatr 8:265-277
7. Cao A, Cianchetti C, Calisti L, De Virgilis S, Ferreli A, Tangheroni W (1978) Schwartz-Jampel syndrome. Clinical, electrophysiological and histopathological study of a severe variant. J Neurol Sci 335:175-187
8. Catel W (1951) Differentialdiagnostische Symptomatologie von Krankheiten des Kindesalters, 2nd edn. Georg Thieme, Stuttgart, pp 48-52
9. Edwards WC, Root AW (1982) Chondrodystrophic myotonia (Schwartz-Jampel syndrome): report of a new case and follow up of patients initially reported in 1969. Am J Med Genet 13:51-56.
10. Fontaine B, Nicole S, Topaloglu H, Ben-Hamida C, Beighton P, Spaans F, Cantu JMA, Bakouri S, Romero N, Ricker K, Barros-Nunez P, Ponsot G, Ben-Hamida M, Weissenbach J, Hentati F, Lehmann-Horn F (1996) Recessive Schwartz-Jampel syndrome (SJS) - confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cm interval. Hum Genet 98:380-385
11. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J (1994) The 1993-1994 Généthon human genetic linkage map. Nature Genet 7:246-339
12. Horan F, Beighton P (1975) Orthopaedic aspects of the Schwartz syndrome. J Bone Joint Surg 57 [Am]:542-544
13. Hunziker UA, Savoldelli G, Boltshauser E, Giedion A, Schinzel A (1989) Prenatal diagnosis of Schwartz-Jampel syndrome with early manifestation. Prenat Diagn 9:127-131
14. Kozlowski K, Wise G (1974) Spondylo-epi-metaphyseal dysplasia with myotonia. A radiographic study (Catel-Hempel syndrome, Schwartz-Jampel syndrome, Aberfeld syndrome, chondrodystrophic myotonia). Radiol Diagn (Berl.) 6:817-824
15. Lachman RS, Rimoin DL, Hollister DW, Dorst JP, Siggers DC, McAlister W, Kaufman RL, Langer LO (1975) The Kniest syndrome. Am J Radiol 123:805-814
16. McKusick VA, Amberger JS, Francomano CA (1996) Progress in medical genetics: map-based gene discovery and the molecular pathology of skeletal dysplasias. Am J Med Genet 63:98-105
17. Mereu TR, Porter IH, Hug G (1969) Myotonia, shortness of stature and hip dysplasia. Schwartz-Jampel syndrome. Am J Dis Child 117:470-478
18. Milachowski K, Keyl W, Witt TN (1982) Das Schwartz-Jampel-Syndrom. Orthopädische und neurologische Probleme der chondrodystrophen Myotonie. Z Orthop 120:657-661
19. Nicole S, Ben Hamida C, Beighton P, Bakouri S, Belai S, Romero N, Viljoen D, Ponsot G, Sammoud A, Weissenbach J (1995) Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping. Hum Mol Gen 4:1633-1636
20. O'Connell DJ, Hall CM (1977) Cranio-carpo-tarsal dysplasia, Radiology 123:719-722
21. Pascuzzi RM, Gratianne R, Azzarelli B, Kincaid JC (1990) Schwartz-Jampel syndrome with dominant inheritance. Muscle Nerve 13:1152-1163
22. Rudel R, Ricker K, Lehmann-Horn F (1993) Genotype-phenotype correlations in human skeletal muscle sodium channel diseases. Arch Neurol 50:1241-1248
23. Sauk JJ, Delaney JR, Reaume C, Brandjord R, Witkop CJ (1974) Electromyography of oral-facial musculature in craniocarpaltarsal dysplasia (Freeman-Sheldon syndrome). Clin Genet 6:132-137
24. Schwartz O, Jampel RS (1962) Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmol 68:52-57
25. Spaans F, Theunissen P, Reekers AD, Smit L, Veldman H (1990) Schwartz-Jampel syndrome: I. Clinical, eletromyographic and histologic studies. Muscle Nerve 13:516-527
26. Superti-Furga A, Rossi A, Steinmann B, Gitzelmann R (1996) A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations. Am J Med Genet 63:144-147
27. Taylor RG, Layzer RB, David HS, Fowler WM (1972) Continuous muscle fiber activity in the Schwartz-Jampel syndrome. Electroencephalogr Clin Neurophysiol 33:479-509
28. Winterpacht A, Superti-Furga A, Schwarze U, Stöss H, Steinmann B. Spranger J, Zabel B (1996) The deletion of six amino acids at the C-terminus of the α1(II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia. J Med Genet 33:649-654