Myotonia, Dwarfism, Diffuse Bone Disease and Unusual Ocular and Facial Abnormalities (A New Syndrome)

Aberfeld, Donald C.; Hinterbuchner, Ladislav P.; Schneider, Monroe

doi:10.1093/brain/88.2.313

Cited by 89 publications

(53 citation statements)

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“…While DDSH is a lethal neonatal mutation, SJS patients typically survive with various mutated forms and reduced levels of Pln in their tissues [ArikawaHirasawa et al, 2001a[ArikawaHirasawa et al, , b, 2002. A single report in the literature describes the morphology of cartilage from an SJS patient, and concludes that normal columnar organization within epiphyseal cartilage is disrupted [Aberfeld et al, 1965]. In addition, human defects in genes encoding glycosyltransferases involved in heparan sulfate assembly result in tumor-like cartilaginous overgrowths called exostoses.…”

Section: In Vivo Studies Of Plnmentioning

confidence: 99%

Perlecan Functions in Chondrogenesis: Insights from in vitro and in vivo Models

Gomes¹,

Farach-Carson²,

Carson³

2004

Cells Tissues Organs

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Perlecan is a large heparan sulfate proteoglycan that is typically found in basal lamina of adult and embryonic tissues. Recent studies have demonstrated that perlecan accumulates impressively during cartilage development and is maintained as the major heparan sulfate proteoglycan of adult cartilage. In vertebrates, perlecan mutations result in skeletal defects. Moreover, in vitro studies indicate that perlecan can stimulate early stages of cartilage differentiation and cooperate with chondrogenic growth factors to promote this process. This short article will summarize these results and propose a model for perlecan function that incorporates these genetic and cell biological findings.

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Section: In Vivo Studies Of Plnmentioning

confidence: 99%

Perlecan Functions in Chondrogenesis: Insights from in vitro and in vivo Models

Gomes¹,

Farach-Carson²,

Carson³

2004

Cells Tissues Organs

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“…The main feature of the 22 known cases (including our own) are summarised in the Table. Apart from some bone deformities sometimes present at birth, the symptoms and signs usually appear only at the end of the first year or during the second year of life (Aberfeld, 1973) (Schwartz andJampel, 1962, Aberfeld et al, 1965;Mereu et al, 1969, Aberfeld et al, 1970. Our patients represent the seventh pair of affected sibs; there are two other pairs of affected sisters (Catel, 1951;Greze et al, 1975), one pair of affected brothers (Beighton, 1973), and three male-female pairs (Schwartz and Jampel, 1962;Huttenlocher et al, 1969;Mereu et al, 1969).…”

Section: Discussionmentioning

confidence: 99%

“…Twenty patients with the syndrome have been described (Catel, 1951;Schwartz and Jampel, 1962;Aberfeld et al, 1965;Huttenlocher et al, 1969;Mereu et al, 1969;Saadat et al, 1972;Taylor et al, 1972;Beighton, 1973;CordeiroFerreira et al, 1973;Fowler et al, 1974;Van Huffelen et al, 1974;Greze et al, 1975;Horan and Beighton, 1975;Kirschner and Pachman, 1976). …”

mentioning

confidence: 99%

Schwartz-Jampel syndrome in two daughters of first cousins.

Pavone¹,

Mollica²,

Grasso³

et al. 1978

Journal of Neurology, Neurosurgery & Psychiatry

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“…[1][2][3][4] This syndrome was first described by Catel 5 in 1951G, and subsequently by Schwartz and Jampel, whose names have been labeled the syndrome. 1,6 The inheritance pattern was presumed to be autosomal recessive, though the possibility of an autosomal dominant mode has been suggested in a few cases.…”

mentioning

confidence: 99%

“…3,7 Case reports of SJS have been described in patients of all major racial groups worldwide. [1][2][3][4][5][6][7][8][9][10] We have had the opportunity to study five Saudi children with almost identical clinical findings of SJS. These cases are presented in order to draw the attention of the practicing clinicians to the existence of this rare syndrome in a country where consanguineous marriage is common.…”

mentioning

confidence: 99%