Authors
Abstract
Ehlers Danlos syndrome (EDS) is an inherited connective tissue disease due to impaired collagen metabolism. Joint hypermobility and skin hyper extensibility are the major findings. Six types of EDS are recognized. Type I or Gravis type is characterized by skin hyperextensibility, joint hypermobility, skin splitting autosoml dominancy inheritance, preterm premature rupture of membrane (PPROM) and varicose vein. Mental retardation has not been reported in the literature. Two cases of unusual type 1 EDS with joint deformity and mental retardation will be reported in this article.
Keywords
1. Steinmann B, Royce PM, Superti-Furga A. The EhlersDanlos syndrome. In Royce PM, Steinmann B, editors:
Connective tissue and its heritable disorders: molecular,
geneƟc, and medical aspects. 2nd ed. New York; WileyLiss; 2002. p. 431-523.
2.Bloom L, Byers P, Francomano C, Tinkle B, Malfait F.
The international consortium on the Ehlers-Danlos
syndromes. Am J Med Genet C Semin Med Genet.
2017;175(1):5-7.
3.Beighton P, De Paepe A, Steinmann B, Tsipouras P,
Wenstrup RJ. Ehlers-Danlos syndromes: revised
nosology, Villefranche, 1997. Ehlers-Danlos National
Foundation (USA) and Ehlers-Danlos Support Group
(UK). Am J Med Genet. 1998;77(1):31-7.
4.Malfait F, Francomano C, Byers P, Belmont J, Berglund
B, Black J, et al. The 2017 internaƟonal classificaƟon of
the Ehlers-Danlos syndromes. Am J Med Genet C Semin
Med Genet. 2017;175(1):8-26.
5.Adib N, Davies K, Grahame R, Woo P, Murray KJ. Joint
hypermobility syndrome in childhood. A not so benign
multisystem disorder? Rheumatology (Oxford).
2005;44(6):744-50.
6.Kumar V, Abbas A, Fausto N. Robbins and Cotran
pathologic basis of disease, Volume 1. 7th ed.
Philadelphia; Elsevier Saunders; 2004.
7.Beighton P. Ehlers-Danlos syndrome (two cases). Proc
R Soc Med. 1968;61:987-8.
8.McKusick VA. Heritable disorders of connective tissue.
4th ed. Maryland Heights, Missouri; Mosby; 1972.
9.Sacheti A, Szemere J, Bernstein B, Tafas T, Schechter
N, Tsipouras P. Chronic pain is a manifestation of the
Ehlers-Danlos syndrome. J Pain Symptom Manage.
1997;14(2):88-93.
10.Liu Y, Gao R, Zhou X, Yuan W. Posterior spinal fusion
for scoliosis in Ehlers-Danlos syndrome, kyphoscoliosis
type. Orthopedics. 2011;34(6):e228-32.
11.Yang JS, Sponseller PD, Yazici M, Johnston CE.
Vascular complications from anterior spine surgery in
three patients with Ehlers-Danlos syndrome. Spine.
2009;15;34(4):E153-7.
Connective tissue and its heritable disorders: molecular,
geneƟc, and medical aspects. 2nd ed. New York; WileyLiss; 2002. p. 431-523.
2.Bloom L, Byers P, Francomano C, Tinkle B, Malfait F.
The international consortium on the Ehlers-Danlos
syndromes. Am J Med Genet C Semin Med Genet.
2017;175(1):5-7.
3.Beighton P, De Paepe A, Steinmann B, Tsipouras P,
Wenstrup RJ. Ehlers-Danlos syndromes: revised
nosology, Villefranche, 1997. Ehlers-Danlos National
Foundation (USA) and Ehlers-Danlos Support Group
(UK). Am J Med Genet. 1998;77(1):31-7.
4.Malfait F, Francomano C, Byers P, Belmont J, Berglund
B, Black J, et al. The 2017 internaƟonal classificaƟon of
the Ehlers-Danlos syndromes. Am J Med Genet C Semin
Med Genet. 2017;175(1):8-26.
5.Adib N, Davies K, Grahame R, Woo P, Murray KJ. Joint
hypermobility syndrome in childhood. A not so benign
multisystem disorder? Rheumatology (Oxford).
2005;44(6):744-50.
6.Kumar V, Abbas A, Fausto N. Robbins and Cotran
pathologic basis of disease, Volume 1. 7th ed.
Philadelphia; Elsevier Saunders; 2004.
7.Beighton P. Ehlers-Danlos syndrome (two cases). Proc
R Soc Med. 1968;61:987-8.
8.McKusick VA. Heritable disorders of connective tissue.
4th ed. Maryland Heights, Missouri; Mosby; 1972.
9.Sacheti A, Szemere J, Bernstein B, Tafas T, Schechter
N, Tsipouras P. Chronic pain is a manifestation of the
Ehlers-Danlos syndrome. J Pain Symptom Manage.
1997;14(2):88-93.
10.Liu Y, Gao R, Zhou X, Yuan W. Posterior spinal fusion
for scoliosis in Ehlers-Danlos syndrome, kyphoscoliosis
type. Orthopedics. 2011;34(6):e228-32.
11.Yang JS, Sponseller PD, Yazici M, Johnston CE.
Vascular complications from anterior spine surgery in
three patients with Ehlers-Danlos syndrome. Spine.
2009;15;34(4):E153-7.
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