The iris in Williams syndrome.

Holmström, Gerd; Almond, Gregory; Temple, I. Karen; Taylor, David; Baraitser, M

doi:10.1136/adc.65.9.987

Cited by 28 publications

(20 citation statements)

References 10 publications

(2 reference statements)

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“…A stellate iris pattern was found to be associated with blue irides and transient infantile hypercalcemia with only the latter being statistically significant. Frequency of blue and stellate iris presentation have been variable in previous studies [Holmström et al, 1990;Winter et al, 1996]. The discrepancy in frequency of stellate irides may be attributable to degree of experience of a clinician in detecting the feature as it is more difficult to detect in dark irides [Holmström et al, 1990;Winter et al, 1996].…”

Section: Clinical Correlations Show Statistically Significant Associamentioning

confidence: 94%

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome

et al. 1999

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Williams-Beuren syndrome (WBS) results from a deletion of 7q11.23 in 90-95% of all clinically typical cases. Clinical manifestation can be variable and therefore, deletion size, inherited elastin (ELN) and LIM kinase 1 (LIMK1) alleles, gender, and parental origin of deletion have been investigated for associations with clinical outcome. In an analysis of 85 confirmed deletion cases, no statistically significant associations were found after Bonferroni's correction for multiple pairwise comparisons. Furthermore, the present data do not support presence of imprinted genes in the WBS common deletion despite a nonsignificant excess of maternal over paternal deletions. Maternal deletion cases were more likely to have a large head circumference in the present data. Also, pairwise comparisons between individual WBS clinical features have been conducted and revealed significant associations between (1) low birth weight and poor postnatal weight gain (<10th percentile at the time of examination) and (2) transient infantile hypercalcemia and a stellate iris pattern. The latter association could indicate a common underlying etiology.

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Section: Clinical Correlations Show Statistically Significant Associamentioning

confidence: 94%

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome

et al. 1999

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“…Therefore, the stellate pattern of the iris stroma which is seen in almost 50% of WBS [24] could be hypothesized to be linked to the ELN deletion seen in our patient.…”

Section: Discussionmentioning

confidence: 88%

Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature

et al. 2014

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BackgroundWilliams-Beuren syndrome is characterized by mild mental retardation, specific neurocognitive profile, hypercalcemia during infancy, distinctive facial features and cardiovascular diseases. We report on complete ophthalmologic, sonographic and genetic evaluation of a girl with a clinical phenotype of Williams-Beuren syndrome, associated with unilateral anterior segment dysgenesis and bilateral cleft of the soft and hard palate. These phenotypic features have not been linked to the haploinsufficiency of genes involved in the microdeletion.Case presentationA term born girl presented at the initial examination with clouding of the right cornea. On ultrasound biomicroscopy the anterior chamber structures were difficult to differentiate, showing severe adhesions from the opacified cornea to the iris with a kerato-irido-lenticular contact to the remnant lens, a finding consistent with Peters' anomaly. Genetic analyses including FISH confirmed a loss of the critical region 7q11.23, usually associated with the typical Williams-Beuren syndrome. Microsatellite analysis showed a loss of about 2.36 Mb.ConclusionsA diagnosis of Williams-Beuren syndrome was made based on the microdeletion of 7q11.23. The unique features, including unilateral microphthalmia and anterior segment dysgenesis, were unlikely to be caused by the microdeletion. Arguments in favor of the latter are unilateral manifestation, as well as the fact that numerous patients with deletions of comparable or microscopically visible size have not shown similar manifestations.

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“…In an analysis of 77 Italian WS cases, mental retardation with characteristic outgoing behavior and hoarse voice, abnormal facies including stellate iris, periorbital fullness and thick lips, and congenital heart disease were the most prevalent diagnostic signs [15]. Stellate irides have been identiWed in approximately 50% of cases of WS [16]. Other signiWcant Wndings include small stature, hallus valgus, hypoplastic nails, and joint contractures [15].…”

Section: Discussionmentioning

confidence: 99%