Marchesani syndrome

Zabriskie, John B.; Reisman, Martin

doi:10.1016/s0022-3476(58)80088-8

Cited by 21 publications

(4 citation statements)

References 5 publications

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“…Patients with Marehesani syndrome are reportedly of normal intelligence [11 ]. Full psychologieM evaluation confirmed this for our patient, however, a strong neurotic component was found.…”

Section: Commentsupporting

confidence: 83%

Weill-Marchesani syndrome

Götz¹,

Schenk²

1973

Z. Kinder-Heilk.

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Marehesani syndrome consists essentially of shortness of stature, spherophakia and other eye abnormalities and brachydactyly. It is probably an inherited disease of unknown etiology manifesting itself in organs of mesodermal origin.Investigations of a patient with the full picture of the syndrome revealed normal growth hormone levels following insulin and glucagon stimulation as well as normal thyroid function. Karyotypy was also normal. Intelligence was average for the patient's age.

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“…Patients with Marehesani syndrome are reportedly of normal intelligence [11 ]. Full psychologieM evaluation confirmed this for our patient, however, a strong neurotic component was found.…”

Section: Commentsupporting

confidence: 83%

Weill-Marchesani syndrome

Götz¹,

Schenk²

1973

Z. Kinder-Heilk.

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“…The consensus of published accounts supports autosomal recessive inheritance with several examples of single cases (Feiler-Ofry et al 1968, Stadlin & Klein 1948 and multiple affected siblings (Cordier et al 1976, Jones 1961, Meyer & Holstein 1941, Zabriskie & Reisman 1958 born to consanguineous healthy parents. In many instances it has been noted that one or both of the parents shows short stature and/or brachydactyly suggesting that heterozygotes may manifest mild features of the condition (Bebe 1983, Feiler-Ofry et al 1968, Jensen et al 1974, Meyer & Holstein 1941, Probert 1953, Rennert 1969, Willi et al 1973, Zabriskie & Reisman 1958. However, severe ocular abnormalities, other than refractive errors (Kloepfer & Rosenthal 1955), are very unusual in these manifesting heterozygotes.…”

Section: Discussionmentioning

confidence: 99%

Weill‐Marchesani syndrome in mother and son

Young¹,

Fielder

Casey

1986

Clinical Genetics

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“…One hundred and twenty eight patients with sporadic, AR or AD WMS reported in the literature from 1932 to 2001 were reviewed with a particular attention to clinical features [Weill, 1932; Marchesani, 1939; Meyer and Holstein, 1941; Schmid, 1946; Stadlin and Klein, 1948; Rousseau and Hermann, 1949; Probert, 1953; Kloepfer and Rosenthal, 1955; Zabriske and Reisman, 1958; Feinberg, 1960; Duque Estrada, 1961; Jones, 1961; Rahman and Rahman, 1963; Hobbs, 1965; Mc Gavic, 1966; Dhanda, 1967; Feiler‐Ofry et al, 1968; King, 1969; Rennert, 1969; Sarma, 1969; Sellem et al, 1970; Soriano and Psilas, 1970; Combe et al, 1971; Larmande and Jézégabel, 1971; Paton and Murdoch, 1971; Amla et al, 1972; Willi et al, 1973; Gorlin et al, 1974; Jensen et al, 1974; Amos and Tilzer, 1976; Cordier et al, 1976; Ferrier et al, 1980; Schmidt and Bernth‐Petersen, 1981; Bebe, 1983; Lee Dellon et al, 1983; Jouhaud et al, 1984; Woodward, 1984; Young et al, 1986; Fujiwara et al, 1990; Haik et al, 1990; Verloes et al, 1992; Kulkarni et al, 1995; Kunz et al, 1995; Nagata et al, 1995; Dietlein et al, 1996; Taylor, 1996; Wirtz et al, 1996; Giordano et al, 1997; Dietlein et al, 1998; Groessl and Anderson, 1998; Evereklioglu et al, 1999; Megarbane et al, 2000]. Inclusion criteria for the diagnosis of WMS were: (i) short stature, (ii) brachydactyly, (iii) microspherophakia and/or ectopia lentis.…”

Section: Methodsmentioning

confidence: 99%

Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome

Faivre

Dollfus

Lyonnet

et al. 2003

American J of Med Genetics Pt A

142

107

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Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of lens, severe myopia, and glaucoma. Both autosomal recessive (AR) and autosomal dominant (AD) modes of inheritance have been described for WMS. A locus for AR WMS has recently been mapped to chromosome 19p13.3-p13.2 while mutation within the fibrillin-1 gene (15q21.1) was found in one AD WMS family. In order to answer the question of whether or not genetic heterogeneity could be related to a clinical heterogeneity, we reviewed 128 WMS patients from the literature (including 57 AR, 50 AD, and 21 sporadic cases), with a particular attention to clinical features. Statistical analyses using Fischer exact test were used to compare the proportions of 12 clinical parameters between AR and AD patients. There was no significant difference between both groups for myopia, glaucoma, cataract, short stature, brachydactyly, thick skin, muscular build, and mental retardation. Significant results were found for microspherophakia (94% in AR, 74% in AD, Fischer 0.007), ectopia lentis (64% in AR, 84% in AD, Fischer 0.016), joint limitations (49% in AR, 77% in AD, Fischer 0.010), and cardiac anomalies (39% in AR, 13% in AD, Fischer 0.004). Nevertheless, we failed to distinguish AR from AD inheritance in individual cases. These results support the clinical homogeneity but the genetic heterogeneity of WMS.

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Marchesani syndrome

Cited by 21 publications

References 5 publications

Weill-Marchesani syndrome

Weill-Marchesani syndrome

Weill‐Marchesani syndrome in mother and son

Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome

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