Ehlers-Danlos Syndrome Type VI (EDS VI): Problems of diagnosis and management

Acta Paediatrica, International Journal of Paediatrics

Volumn 87, Issue 6, 1998, Pages 708-710

  Heim, P ^a   Raghunath, M ^b,d   Meiss, L ^a   Heise, U ^a   Myllyla R ^c   Kohlschutter A ^a   Steinmann, B ^b  

^a UNIVERSITY OF HAMBURG   (Germany)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c UNIVERSITY OF OULU   (Finland)

^d UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

Hydroxylysine deficiency; Joint laxity; Skin hyperextensibility; Spinal fusion

Indexed keywords

HYDROXYLYSINE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CONNECTIVE TISSUE DISEASE; DIAGNOSTIC TEST; EARLY DIAGNOSIS; EHLERS DANLOS SYNDROME; ENZYME DEFICIENCY; HUMAN; INSTRUMENTATION; JOINT LAXITY; PRIORITY JOURNAL; SPINE FUSION;

ADOLESCENT; BIOPSY; DIAGNOSIS, DIFFERENTIAL; EHLERS-DANLOS SYNDROME; FIBROBLASTS; HUMANS; MALE; PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; SKIN;

EID: 0031825388     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1080/080352598750014184     Document Type: Article

References (6)

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2. Steinmann B, Gitzelmann R, Vogel A, Grant ME, Harwood R, Sear CHJ. Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin. Helv Paediat Acta 1975; 30: 255-74
3. Hyland J, Ala-Kokko L, Royce P, Steinmann B, Kivirikko KI, Myllylä R. A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI. Nature Genetics 1992; 2: 228-31
4. Steinmann B, Royce PM, Superti-Furga A. The Ehlers-Danlos syndrome. In: Royce PM and Steinmann B, editors. Connective tissue and its heritable disorders. Molecular, genetic, and medical aspects. New York: Wiley-Liss. 1993; 351-407
5. McMaster MJ. Spinal deformity in Ehlers-Danlos syndrome - live patients treated by spinal fusion. J Bone Joint Surg 1994; 51B: 444-53
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