The Syndrome of Coffin, Siris and Wegienka: Report of a Case

Sylvester, P. E.; Rundle, A. T.; Richards, B. W.

doi:10.1111/j.1365-2788.1976.tb00015.x

Cited by 7 publications

(4 citation statements)

References 9 publications

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“…The mean age of patients noted to have small jaw was 8.1 years, whereas for patients with a prominent chin it was well over 20 years. The three patients recorded as having completely normal spine radiographs had a mean age of only 5.3 years and previous authors (Coffin et al 1966, Procopis & Turner 1972, Sylvester et al 1976) as well as ourselves, have observed progression from normal to abnormal skeletal radiographs over time. In addition, skeletal height appears to have fallen off with time in three of our patients.…”

Section: Discussionmentioning

confidence: 58%

The Coffin‐Lowry syndrome. Experience from four centres

1982

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The Coffin‐Lowry syndrome is an established syndrome of mental retardation, a characteristic facies and skeletal anomalies. This paper describes 12 cases from eight families and compares their findings with those of previously reported patients. The differential diagnosis is considered. Physical findings and pedigree data strongly support X‐linked semi‐dominant inheritance. The gene appears widely distributed and, as expected, a significant proportion of cases represent new mutations. We cannot confirm the metacarpal‐phalangeal profile or fingertip dermatoglyphics as useful diagnostic aids. Skin biopsy studies from four of our patients gave no evidence for a primary disorder of lysosomes or a degenerative disease. Caution is urged before assuming that such patients will all show intellectual deterioration.

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Section: Discussionmentioning

confidence: 58%

The Coffin‐Lowry syndrome. Experience from four centres

1982

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“…The Coffin-Lowry syndrome is itself a rare disorder and we are aware of only one other case reported from the United Kingdom (Sylvester et al, 1976). Curiously this case also originated from Leicester although we have been unable to trace any connection between the two families.…”

Section: Discussionmentioning

confidence: 67%

Coffin‐Lowry syndrome and schizophrenia: a family report

Collacott¹,

Warrington²,

Young³

1987

J intellect Disabil Res

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ABSTRACT. A family is reported in which the mother and 4 of her 6 children are affected by a constellation of abnormalities including mental handicap, abnormal facies, short stature, soft fleshy hands with sapering fingers and skeletal abnormalities. The family is believed to represent a further group of individuals with Coffin‐Lowry syndrome. Additionally, one affected daughter has symptoms suggestive of schizophrenia and one affected son has severe sensorineural deafness.

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“…Detailed descriptions can be found in single case reports. In 1976, Sylvester et al reported a patient who had epileptic fits in infancy, which diminished in frequency by the age of two and a half and ceased at 14 years [10]. Bender et al, in 2011, described a patient diagnosed with partial epilepsy at the age of four years.…”

Section: Literature Reviewmentioning

confidence: 99%

Epilepsy features in ARID1B‐related Coffin‐Siris syndrome

Proietti¹,

Amadori²,

Striano³

et al. 2021

Epileptic Disorders

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Objective. Coffin‐Siris syndrome (CSS) is a rare congenital malformation syndrome, caused by mutations in the ARID1B gene in over half of the cases. While the clinical characteristics of the syndrome have been increasingly described, a detailed evaluation of the epileptic phenotype in patients with ARID1B alterations and CSS has not been approached yet. We report seven patients with ARID1B‐related CSS, focusing on epilepsy and its electroclinical features. Methods. The evolution of epilepsy and EEG findings of children with CSS are described and compared with patients previously reported in the literature. Results. The patients described here reveal common features, consistent with those of patients previously described in the literature. Significance. The epilepsy phenotype of CSS due to ARID1B pathogenic variants may be described as focal epilepsy with seizures, variable in frequency, arising from motor areas, with onset in the first years of life and susceptibility to fever, and interictal perisylvian (centrotemporal) epileptiform abnormalities that are enhanced during sleep with possible evolution to an EEG pattern of continuous spike and wave during sleep (without documented developmental regression). Additional information emerging from other patients is needed to confirm this definition.

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The Syndrome of Coffin, Siris and Wegienka: Report of a Case

Cited by 7 publications

References 9 publications

The Coffin‐Lowry syndrome. Experience from four centres

The Coffin‐Lowry syndrome. Experience from four centres

Coffin‐Lowry syndrome and schizophrenia: a family report

Epilepsy features in ARID1B‐related Coffin‐Siris syndrome

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