Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: Nosology and genetics of the coffin‐siris syndrome

Rabe, Petra; Haverkamp, F.; Emons, D.; Rosskamp, R.; Zerres, Klaus; Passarge, Eberhard

doi:10.1002/ajmg.1320410317

Cited by 35 publications

(26 citation statements)

References 23 publications

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“…We used the RESEARCH app of the Face2Gene suite to evaluate a classifier for the five most prevalent GPIBDs, that is PIGA (n=20), PIGN (n=11), PIGT (n=12), PIGV (n=25), and PGAP3 (n=23) at the current moment. Our original sample set thus consists of frontal facial photos of 91 individuals with a molecularly confirmed diagnosis of HPMRS or MCAHS, including cases that have been previously published [5, 9-11, 13-15, 19, 27-29, 31-33, 38, 43, 47, 49, 50, 52-56, 60, 63]. The mean accuracy that is achieved on this original sample set is 52.2 %, which is significantly better than randomly expected.…”

Section: Resultsmentioning

confidence: 99%

Characterization of Glycosylphosphatidylinositol Biosynthesis Defects by Clinical Features, Flow Cytometry, and Automated Image Analysis

Knaus

Pantel

Pendziwiat³

et al. 2017

Preprint

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Section: Resultsmentioning

confidence: 99%

Characterization of Glycosylphosphatidylinositol Biosynthesis Defects by Clinical Features, Flow Cytometry, and Automated Image Analysis

Knaus

Pantel

Pendziwiat³

et al. 2017

Preprint

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“…Rabe et al [1991] reported two individuals who presented with delayed development, coarse facial features, a broad nose and anteverted nares, and hypoplastic fifth digits. They were both found to have elevated levels of alkaline phosphatase (>1000 U/Liter, normal < 600) unattributable to other causes.…”

Section: Discussion and Review Of Literaturementioning

confidence: 99%

The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

Schrier

Bodurtha

Burton

et al. 2012

American J of Med Genetics Pt A

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Coffin-Siris syndrome (CSS) is a rare, clinically heterogeneous disorder often considered in the setting of cognitive/developmental delay and 5th finger/nail hypoplasia. Due to the clinical variability of facial and other features, this diagnosis is often difficult to confirm clinically and the existence of this disorder as a specific diagnosis has been at times an issue of debate. In an effort to further delineate the spectrum and key phenotypic features, we reviewed 80 previously reported cases to define features in patients that most closely correlated with a convincing diagnosis. There appear to be two subtypes of CSS, one which displays the “classic” coarse facial features previously described; another displays “variant” facial features which are less striking. Using these features, we defined an algorithm to rank the confidence of diagnosis and applied it to fifteen additional patients who had been previously characterized by chromosome microarray. This approach will also facilitate uniform categorization for whole-exome analysis.

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“…As this syndrome's etiology remains unknown, the diagnosis is based solely on clinical findings. Both autosomal recessive and autosomal dominant inheritance have been reported [Coffin and Siris, 1970;Carey and Hall, 1978;Hersch et al, 1982;Haspeslagh et al, 1984;Franceschini et al, 1986;Richieri-Costa et al, 1986;Rabe et al, 1991;Bonioli et al, 1995].…”

Section: Introductionmentioning

confidence: 93%

Autosomal dominant syndrome resembling Coffin–Siris syndrome

Flynn

Milunsky

2006

American J of Med Genetics Pt A

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Coffin-Siris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]. The diagnosis is based solely on clinical findings, as there is currently no molecular, biochemical, or cytogenetic analysis available to confirm a diagnosis. Although typically described as an autosomal recessive disorder, autosomal dominant inheritance has also been infrequently reported. We describe a mother and her two daughters who all have features that resemble Coffin-Siris syndrome. However, this is not a completely convincing diagnosis given that hypertelorism is not a feature of Coffin-Siris syndrome and the family is relatively mildly affected. Yet, this family provides further evidence of an autosomal dominant mode of inheritance for a likely variant of Coffin-Siris syndrome (at least in some families). In addition, Sibling 1 had premature thelarche. She is the second reported individual within the spectrum of Coffin-Siris syndrome to have premature thelarche, indicating that it may be a rare clinical feature.

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Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: Nosology and genetics of the coffin‐siris syndrome

Cited by 35 publications

References 23 publications

Characterization of Glycosylphosphatidylinositol Biosynthesis Defects by Clinical Features, Flow Cytometry, and Automated Image Analysis

Characterization of Glycosylphosphatidylinositol Biosynthesis Defects by Clinical Features, Flow Cytometry, and Automated Image Analysis

The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

Autosomal dominant syndrome resembling Coffin–Siris syndrome

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