A new X‐linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia

Wieacker, Peter; Wolff, Gerhard; Wienker, Thomas F.; Sauer, M.; Opitz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320200405

Cited by 48 publications

(17 citation statements)

References 12 publications

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“…Wieacker–Wolff syndrome was first described by Peter Wieacker and Gerhard Wolff in 1985, in which they reported one family with six affected males (Wieacker, Wolff, Wienker, & Sauer, ). They described a syndrome of congenital contracture of the feet, progressive neurologic muscle atrophy, and associated intellectual disability that was inherited in an X‐linked fashion.…”

Section: Introductionmentioning

confidence: 99%

Wieacker–Wolff syndrome with associated cleft palate in a female case

Godfrey¹,

Dowlatshahi²,

Martín

et al. 2017

American J of Med Genetics Pt A

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Wieacker-Wolff syndrome is a rare congenital syndrome with few reported cases in the current literature. It is traditionally described in males as an X-linked recessive disorder associated with congenital contractures of the feet, progressive neurologic muscular atrophy, and intellectual delay caused by ZC4H2 mutations. The purpose of this paper is to present a female individual with a classic phenotype and cleft palate, a previously undescribed finding in this syndrome. Recent reports have demonstrated that females are rarely severely affected and phenotypic expression is difficult to predict [Zanzottera et al. (); American Journal of Medical Genetics Part A 173A: 1358-1363]. This case supports the unpredictability of Wieacker-Wolff syndrome severity and prompts future questions regarding female mutations and phenotypic expression.

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Section: Introductionmentioning

confidence: 99%

Wieacker–Wolff syndrome with associated cleft palate in a female case

Godfrey¹,

Dowlatshahi²,

Martín

et al. 2017

American J of Med Genetics Pt A

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“…Mapping studies of this family would be of interest. The patients in the family reported by Wieacker et al [1985] have milder mental retardation and no spasticity, but have neurological abnormalities (oculomotor apraxia), muscle atrophy, and a similar facial appearance; the entity maps to a similar location on the X-chromosome [Wieacker et al, 19871.…”

Section: Discussionmentioning

confidence: 99%

Allan‐herndon‐dudley syndrome: Clinical and linkage studies on a second family

et al. 1992

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We restudied a family with X-linked mental retardation (XLMR) originally reported in abstract form by Davis et al. [1981]. All 8 living affected males were examined. Characteristics included severe mental retardation, spastic paraplegia, dysarthria, muscle wasting, scoliosis, broad shallow pectus excavatum, long face, large ears with minor modeling anomalies, foot deformities, joint contractures, and neck drop. Stature, OFC, testicular volume, high resolution chromosome and fragile X studies, and plasma amino acids were all normal. Their manifestations closely resemble those of a large family with XLMR originally reported by Allan et al. [1944] and restudied by Stevenson et al. [1990]. This condition has been termed the Allan-Herndon-Dudley syndrome (AHDS). As AHDS has been mapped to Xq21, mapping studies were undertaken to determine if this family maps to the same location. These studies demonstrate tight linkage to Xq21, with a maximum lod score of 2.88 obtained with probe pX65H7 (DXS72). Multipoint analysis located the mutant gene quite close to pX65H7 (multipoint Z = 4.14), slightly more proximal in Xq21 than was suggested by the data from the original AHDS family. It appears likely that this family is the second reported family with AHDS.

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“…Diseases with X-linked inheritance and accompanied by mental retardation have been catalogued by McKusick (1983) and form two categories: 1) Specific X-linked mental retardation cases that form a part of wellcharacterised entities such as: Renpenning syndrome (Renpenning et al 1962); X-linked mental retardation with hypotonia (Allan et al 1964); X-linked mental retardation with growth retardation, deafness and macrogenitalism (Juberg & Marsidi 1980); mental retardation associated with marker chromosome Xq27 (Lubs 1969); X-linked syndrome with muscle atrophy, congenital contractures and oculomotor apraxia (Wieacker et al 1985); X-linked mental retardation with short stature, macrocephaly, "coarse" facial appearance including prominent forehead and supraorbital ridges, hypertelorism, broad nasal tip with anteverted nostrils and thick lips (Atkin et al 1985) and the Borjeson-Forssmann-Lehmann syndrome in which, in addition to severe mental retardation, the patients had a characteristic facial appearance (prominent supraorbital ridges, deep-set eyes, ptosis and large ears), relative microcephaly, obesity, hypotonia and hypogonadism (Ardinger et al 1984, Dereymaeker et al 1986.…”

Section: Discussionmentioning

confidence: 99%

X‐linked dysmorphic syndrome with mental retardation

Prieto¹,

Badía²,

Mulas

et al. 1987

Clinical Genetics

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We present a dysmorphic syndrome in eight males of the same family (four brothers, three cousins and one uncle) that is characterised by: mental retardation, facial dysmorphia, abnormal growth of teeth, skin dimple at the lower back, clinodactyly, patella luxation, malformation of lower limbs, abnormalities of the fundus of the eye and subcortical cerebral atrophy. These physical defects do not correspond to any previously described syndrome, which suggests that it is a new syndrome. According to the model of heredity this syndrome could be due to a mutant gene situated in the X‐chromosome.

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A new X‐linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia

Cited by 48 publications

References 12 publications

Wieacker–Wolff syndrome with associated cleft palate in a female case

Wieacker–Wolff syndrome with associated cleft palate in a female case

Allan‐herndon‐dudley syndrome: Clinical and linkage studies on a second family

X‐linked dysmorphic syndrome with mental retardation

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