International nosology of heritable disorders of connective tissue, Berlin, 1986

Beighton, Peter; Paepe, A De; Danks, D. M.; Finidori, G; Gedde‐Dahl, Tobias; Goodman, Richard M.; Hall, Judith G.; Hollister, David W.; Horton, William A.; McKusick, Victor A.; Opitz, John M.; Pope, F M; Pyeritz, Reed E.; Dl, Rimoin; Sillence, David; Spranger, Jürgen W.; Thompson, Elizabeth; Tsipouras, Petros; Viljoen, Denis; Winship, Ingrid; Young, Ian; Reynolds, James F.

doi:10.1002/ajmg.1320290316

Cited by 660 publications

(353 citation statements)

References 72 publications

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“…The succession of classifications (Berlin, Ghent 1, and Ghent 2) illustrates the difficulty in diagnosis. [4][5][6][7] Although the phenotype in adults is becoming well documented, data in children are much rarer because of marked phenotypic variability both between and within families, and incomplete phenotype in the young, limiting effectiveness of familial screening in children in the absence of molecular biology. Therefore, child populations examined in earlier reports were possibly biased toward severe phenotypes.…”

Section: Introductionmentioning

confidence: 99%

Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition

Stheneur

Tubach

Jouneaux

et al. 2014

Genetics in Medicine

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Section: Introductionmentioning

confidence: 99%

Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition

Stheneur

Tubach

Jouneaux

et al. 2014

Genetics in Medicine

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“…It is usually noted when a child starts to walk. It should be assessed using the Beighton scale, 3 the most widely accepted grading system for the objective semiquantification of joint hypermobility (Table 1). …”

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confidence: 99%

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

Malfait

Wenstrup

Paepe

2010

Genetics in Medicine

253

240

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“…The syndrome manifests itself in a wide range of clinical signs and symptoms: from mild skin laxity and joint hypermobility to severe disabling luxations, and bleeding as a result of a rupture of the greater vessels, or by a rupture of the intestine (1)(2)(3). Ehlers-Danlos Syndrome may be inherited, usually following an autosomal dominant pattern, or may be caused by a new mutation.…”

mentioning

confidence: 99%

“…Nine different types of EDS have been identified, based on phenotypic manifestations, specific biochemical and molecular abnormalities, and C Acta Obstet Gynecol Scand 81 (2002) mode of inheritance (3). Most of the cases concern types I, II and III (approximately 30% each); in approximately 10% of the cases type lV is concerned, and the remaining types are rare (1).…”

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confidence: 99%

Pregnancy and the Ehlers-Danlos syndrome: a retrospective study in a Dutch population

Lind¹,

Wallenburg²

2002

Acta Obstet Gynecol Scand

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Background. The study was carried out to assess the course and outcome of pregnancies in women with the Ehlers-Danlos syndrome, with the aim of developing guidelines for assessment of risk and counseling, and for providing optimum medical and obstetric care. Methods. A retrospective study based on data collected from members of the Dutch Association of Ehlers-Danlos patients. Pregnancies and neonatal outcomes of the affected mothers were compared with those of the nonaffected mothers who delivered an infant with Ehlers-Danlos syndrome.Results. In a group of 46 women with Ehlers-Danlos syndrome, 128 pregnancies beyond 24 weeks gestation were evaluated and compared with 43 pregnancies of 33 nonaffected women. The main maternal complications consisted of pelvic pain and instability (26% vs. 7%). One bowel rupture was reported in a woman with Ehlers-Danlos syndrome type IV. Preterm delivery occurred in 21% of the affected mothers compared with 40% of the nonaffected women with an affected infant; the women with Ehlers-Danlos syndrome experienced postpartum hemorrhage (19% vs. 7%) and complicated perineal wounds (8% vs. 0%) more often than the unaffected women. The floppy infant syndrome was diagnosed in 13% of the affected infants and did not occur in the nonaffected neonates. Conclusion. Pregnancy is generally well-tolerated in women with Ehlers-Danlos syndrome, with favorable maternal and neonatal outcomes. In Ehlers-Danlos syndrome type IV it may be associated with severe maternal complications. Preconceptional counseling concerning specific possible complications and a multidisciplinary approach are recommended.

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International nosology of heritable disorders of connective tissue, Berlin, 1986

Cited by 660 publications

References 72 publications

Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition

Study of phenotype evolution during childhood in Marfan syndrome to improve clinical recognition

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

Pregnancy and the Ehlers-Danlos syndrome: a retrospective study in a Dutch population

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