Mental retardation‐clasped thumb syndrome

Yeatman, Gentry W.; Opitz, John M.

doi:10.1002/ajmg.1320170127

Cited by 36 publications

(10 citation statements)

References 10 publications

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“…The adducted thumb may be present in a number of other conditions: congenital arthrogryposis, Freeman-Sheldon syndrome, Christian syndrome [Freeman and Sheldon, 1938;Christian et al, 19711, or trauma after birth. The cause of adducted thumbs in HSASlMASA syndrome is not clear: it could be due to cortical tract involvement, or to a concomitant anomaly [Kuzniecky et al, 19861. In MASA syndrome as well in HSAS, adducted thumbs appear not to be related to a concomitant hydrocephalus [Bianchine and Lewis, 1974;Yeatman et al, 1984;present study, Table I]. In one report, direct exploration demonstrated ahypoplasia of the extensor muscle of the thumb [Yeatman et al, 19841. The families in this report confirm the extensive overlap between MASA syndrome and HSAS (Table I), suggesting a common cause.…”

Section: Discussionmentioning

confidence: 80%

“…We reviewed the clinical data on 13 families, previously reported as having MASA syndrome; there was a total of 98 patients [Bianchine and Lewis, 1974;Yeatman, 1984;Gareis and Mason, 1984;Kenwrick et al, 1986;Winter et al, 1989 (additional data on this family in Willems et al, 1990);Schrander-Stumpel et al, 1990;Rietschel et al, 1991;Fryns et al, 1991Fryns et al, , 1992Straussberg et al, 1991;Macias et al, 1992;Kaepernick et al, 1994;Boyd et al, 19931. In most reported families with HSAS, patients die during pregnancy (partly due to induced labour after prenatal diagnosis), during or shortly after birth, or after some weeks or months. We were able to review 25 HSAS families with data on 70 patients with survival beyond 1 year (out of a total of 145 affected patients) [Borle, 1953;Klein, 1954;Edwards, 1961;Needleman and Root, 1963;Shannon and Nadler, 1965;Sajid and Copple, 1968; Martin et al, 1971;Fried, 1972;Jansen, 1975;Viseskul et al, 1975;Faivre et al, 1976;Holtzman et al, 1976;Landrieu et al, 1979;Willems et al, 1987;Varadi et al, 1987;Kelley et al, 1988;Serville et al, 19921.…”

Section: Literature Datamentioning

confidence: 99%

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Spectrum of X‐linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families

et al. 1995

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X-linked hydrocephalus (HSAS) (MIM *307000), MASA syndrome (MIM *303350), and complicated spastic paraplegia (SPG1) (MIM *312900) are closely related. Soon after delineation, SPG1 was incorporated into the spectrum of MASA syndrome. HSAS and MASA syndrome show great clinical overlap; DNA linkage analysis places the loci at Xq28. In an increasing number of families with MASA syndrome or HSAS, mutations in L1CAM, a gene located at Xq28, have been reported. In order to further delineate the clinical spectrum, we studied 6 families with male patients presenting with MASA syndrome, HSAS, or a mixed phenotype. We summarized data from previous reports and compared them with our data. Clinical variability appears to be great, even within families. Problems in genetic counseling and prenatal diagnosis, the possible overlap with X-linked corpus callosum agenesis and FG syndrome, and the different forms of X-linked complicated spastic paraplegia are discussed. Since adducted thumbs and spastic paraplegia are found in 90% of the patients, the condition may be present in males with nonspecific mental retardation. We propose to abandon the designation MASA syndrome and use the term HSAS/MASA spectrum, incorporating SPG1.

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Section: Discussionmentioning

confidence: 80%

Section: Literature Datamentioning

confidence: 99%

Spectrum of X‐linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families

et al. 1995

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“…In the differential diagnosis of MASA syndrome, congenital hydrocephalus has to be considered; this can occur as an X linked recessive trait and is known to be associated with adducted thumbs in about 50% of cases.' 10 The adducted thumbs in MASA syndrome are thought to be caused by hypoplasia or absence of the extensor pollicis longis and/or brevis muscles; this assumption has been proven once by surgical explora- 6 tion. The clasped thumbs in X linked hydrocephalus are thought to be a developmental defect of the abductor and/or extensor muscles as well, shown by electrophysiological and surgical findings.…”

Section: Family Historymentioning

confidence: 99%

MASA syndrome: new clinical features and linkage analysis using DNA probes.

Schrander‐Stumpel

Legius

Fryns

et al. 1990

Journal of Medical Genetics

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We describe a two generation family in which two males have the X linked recessive MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs). A (fig 2). Apart from the macrocephaly, no facial dysmorphism was present. His left eye showed divergent strabismus. The pupils were irregularly shaped but did react to light. Fundoscopy of both eyes was normal. He held both thumbs in flexionadduction (fig 3) and the function of the abductor pollicis longus muscle was clinically absent. The fifth fingers showed camptodactyly. Neurological examination showed a mild dysarthria and a spastic paraplegia of the legs. Chromosomes were normal male 46,XY, and fragile X screening was negative.

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“…Other X-linked syndromes of mental retardation with spasticity and flexion deformities of the thumbs have been reported before, particularly the MASA syndrome [1,4,18] whose gene locus also maps to the distal long arm of the X chromosome, close to the DXS52 locus (Xq2.8, [11,15]). Because of the absence of hydrocephalus and macrocephaly in their original series of MASA syndrome, Bianchine et al [1] claimed that they were dealing with a nosological entity distinct from the Xlinked H-SAS.…”

Section: Discussionmentioning

confidence: 94%

X-linked hydrocephalus: Clinical heterogeneity at a single gene locus

et al. 1992

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X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence (H-SAS, MIM number 30007) is a rare genetic disorder characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, agenesis of corpus callosum and mental retardation. We confirm here the localisation of the mutant gene on Xq (Xq 2.8) by linkage analysis in a 5-generation pedigree (maximum lod score of Z = 4.57 at theta = 0.04 with probe St14 at locus DXS52) and emphasise the phenotypic variability of the disease. Ventricular dilatation in affected males was either severe and diagnosed antenatally or moderate and consistent with a long survival with little or no macrocephaly. Since other X-linked syndromes of mental retardation with spasticity and flexion deformities of the thumbs have previously been shown to map to the Xq 2.8 region as well (e.g. MASA syndrome and spastic paraplegia), the present results raise the question of whether H-SAS syndrome, MASA syndrome and spastic paraplegia with mental retardation might represent different phenotypic expression of various mutations at the same locus.

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Mental retardation‐clasped thumb syndrome

Cited by 36 publications

References 10 publications

Spectrum of X‐linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families

Spectrum of X‐linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families

MASA syndrome: new clinical features and linkage analysis using DNA probes.

X-linked hydrocephalus: Clinical heterogeneity at a single gene locus

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