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Autosomal recessive Ehlers-Danlos syndrome, vascular type

MedGen UID:
541287
Concept ID:
C0268340
Disease or Syndrome
Synonyms: autosomal recessive Ehlers-Danlos syndrome, vascular type; autosomal recessive type IV Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, recessive type 4; Ehlers-Danlos syndrome, vascular type, autosomal recessive
 
Monarch Initiative: MONDO:0002014

Definition

The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported. [from MONDO]

Recent clinical studies

Etiology

Esaka EJ, Golde SH, Stever MR, Thomas RL
Obstet Gynecol 2009 Feb;113(2 Pt 2):515-518. doi: 10.1097/AOG.0b013e3181898cbf. PMID: 19155940
Lawrence EJ
Adv Neonatal Care 2005 Dec;5(6):301-14. doi: 10.1016/j.adnc.2005.09.006. PMID: 16338669
Maroteaux P, Frézal J, Cohen-Solal L
Am J Med Genet 1986 Jun;24(2):219-30. doi: 10.1002/ajmg.1320240203. PMID: 3717207

Diagnosis

Tosun A, Kurtgoz S, Dursun S, Bozkurt G
Pediatr Neurol 2014 Oct;51(4):566-9. Epub 2014 Jul 10 doi: 10.1016/j.pediatrneurol.2014.06.020. PMID: 25266621
Esaka EJ, Golde SH, Stever MR, Thomas RL
Obstet Gynecol 2009 Feb;113(2 Pt 2):515-518. doi: 10.1097/AOG.0b013e3181898cbf. PMID: 19155940
Ballabio E, Bersano A, Bresolin N, Candelise L
J Cereb Blood Flow Metab 2007 Oct;27(10):1649-62. Epub 2007 Jun 20 doi: 10.1038/sj.jcbfm.9600520. PMID: 17579657
Lawrence EJ
Adv Neonatal Care 2005 Dec;5(6):301-14. doi: 10.1016/j.adnc.2005.09.006. PMID: 16338669

Prognosis

Esaka EJ, Golde SH, Stever MR, Thomas RL
Obstet Gynecol 2009 Feb;113(2 Pt 2):515-518. doi: 10.1097/AOG.0b013e3181898cbf. PMID: 19155940
Lawrence EJ
Adv Neonatal Care 2005 Dec;5(6):301-14. doi: 10.1016/j.adnc.2005.09.006. PMID: 16338669
Maroteaux P, Frézal J, Cohen-Solal L
Am J Med Genet 1986 Jun;24(2):219-30. doi: 10.1002/ajmg.1320240203. PMID: 3717207

Clinical prediction guides

Tosun A, Kurtgoz S, Dursun S, Bozkurt G
Pediatr Neurol 2014 Oct;51(4):566-9. Epub 2014 Jul 10 doi: 10.1016/j.pediatrneurol.2014.06.020. PMID: 25266621

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