Ehlers-Danlos Syndrome

Lewitus, Z

doi:10.1001/archderm.1956.01550020058008

Cited by 8 publications

(5 citation statements)

References 10 publications

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“…However, polycystic kidneys in infants and children also can be classified into those that are nonsyndromal and syndromal (Table I). Syndromal PKD occurs in tuberous sclerosis [Bernstein et al, 1986;Kandt et al, 19921, von Hippel Lindau syndrome [Lamiell et al, 19801, oro-facial-digital syndrome type I [Kennedy et al, 1991;Salinas et al, 19911, and overlap connective tissue disorder (OCTD) [Somlo et al, 19931. PKD has also been reported in 2 cases of Ehlers-Danlos syndrome [Lewitus, 1956;Imahori et al, 19691. "Adult" PKD has been reported in one patient [Rosenmann et al, 19771, and cystic kidneys have been reported in 4 others with Hajdu-Cheney syndrome, which is inherited as an autosomal dominant trait. The Hajdu-Cheney acroosteolysis syndrome [Cheney, 1965;Matisonn and Ziady, 1973;Williams, 1977;Herrmann et al, 1973;Gilula et al, 1976;Kawamura et al, 1991;Kemp et al, 1986;Udell et al, 1986;Kaler et al, 1990;Pellegrini and Widdowson, 19911 mainly involves the skeleton.…”

Section: Introductionmentioning

confidence: 94%

Cystic kidney disease in Hajdu‐Cheney syndrome

et al. 1995

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We report on 2 unrelated patients with Hajdu-Cheney acroosteolysis syndrome, who had cystic kidneys with ultrasonographic changes similar to those of autosomal dominant polycystic kidney disease. Neither had a family history of Hajdu-Cheney syndrome or polycystic kidneys, nor manifestations of any other syndrome. On the basis of the findings in these 2 patients and a review of published cases, we suggest that cystic kidneys are an important component of Hajdu-Cheney syndrome.

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Section: Introductionmentioning

confidence: 94%

Cystic kidney disease in Hajdu‐Cheney syndrome

et al. 1995

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“…Two had findings compatible with mild Ehlers-Danlos syndrome. Ehlers-Danlos syndrome was reported in 2 patients with apparent PKD [Lewitus, 1956;Imahori et al, 1969], a patient with autosomal recessive PKD [Mauseth et al, 1977], and patients with medullary sponge kidneys [Levine and Michael, 1967]. Somlo et al [1993] described a kindred in which there was cosegregation of the 16p-linked form of PKD and an "overlap" connective tissue disorder similar to Marfan syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…Syndromal PKD occurs in tuberous sclerosis [Bernstein and Kissane, 1986;Kandt et al, 1992], von Hippel-Lindau syndrome [Lamiell et al, 1980;Frimodt-Moller et al, 1981], the oro-facial-digital syndrome type I [Kennedy et al, 1991;Salinas et al, 1991], and Hajdu-Cheney syndrome [Rosenmann et al, 1977;van den Houten, 1985;Zahram, 1984;Exner, 1988;Kaplan et al, 1995]. PKD has also been reported in two cases of Ehlers-Danlos syndrome [Lewitus, 1956;Imahori et al, 1969]. In addition, Somlo et al [1993] reported a kindred with PKD1 and a connective tissue disorder similar to Marfan syndrome.…”

Section: Introductionmentioning

confidence: 99%

Cystic kidneys associated with connective tissue disorders

Kaplan¹,

Kaplan²,

Kessler³

1997

Am. J. Med. Genet.

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Advances in molecular genetics have resulted in the identification of several forms of autosomal dominant polycystic kidney disease (PKD). Cystic kidneys have also been observed in tuberous sclerosis, von Hippel-Lindau syndrome, oro-facial-digital type I syndrome, Hajdu-Cheney syndrome, Ehlers-Danlos syndrome, and an "overlap" connective tissue disorder, and cannot be distinguished by ultrasonography from PKD. We have studied four children with similar cystic kidneys. None had a family history of PKD. One child has osteogenesis imperfecta type IV, two appeared to have a mild Ehlers-Danlos syndrome, and the fourth has inguinal hernias and undescended testes. We speculate that polycystic kidneys may occur in connective tissue dysplasias. We also realize that these may be chance associations with spontaneous mutations for PKD.

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“…Two had findings compatible with mild EhlersDanlos syndrome. Ehlers-Danlos syndrome was reported in 2 patients with apparent PKD [Lewitus, 1956;Imahori et al, 1969], a patient with autosomal recessive PKD [Mauseth et al, 1977], and patients with medullary sponge kidneys [Levine and Michael, 1967]. Somlo et al [1993] described a kindred in which there was cosegregation of the 16p-linked form of PKD and an "overlap" connective tissue disorder similar to Marfan syndrome.…”

Section: Cystic Kidneys and Connective Tissue Disorders 135mentioning

confidence: 99%

“…Syndromal PKD occurs in tuberous sclerosis [Bernstein and Kissane, 1986;Kandt et al, 1992], von HippelLindau syndrome [Lamiell et al, 1980;FrimodtMoller et al, 1981], the oro-facial-digital syndrome type I [Kennedy et al, 1991;Salinas et al, 1991], and Hajdu-Cheney syndrome [Rosenmann et al, 1977;van den Houten, 1985;Zahram, 1984;Exner, 1988;Kaplan et al, 1995]. PKD has also been reported in two cases of Ehlers-Danlos syndrome [Lewitus, 1956;Imahori et al, 1969]. In addition, Somlo et al [1993] reported a kindred with PKD1 and a connective tissue disorder similar to Marfan syndrome.…”

Section: Introductionmentioning

confidence: 99%