Cleft palate in a patient with Williams' syndrome

The Journal of Craniofacial Surgery
F Blanco-Dávila, J A Olveda-Rodriguez

Abstract

Cleft lip or palate has not been reported in the medical literature as a part of Williams' syndrome. We present a patient who had cleft palate among other congenital manifestations. This patient's immediate postnatal period clinically seemed to have a Pierre Robin sequence. With the development of the craniofacial complex, microgenia and micrognathia with glossoptosis gradually became apparent. On further assessment, the patient showed other clinical findings that suggested a syndromic association. This required a complete evaluation to discard other conditions that present with low psychomotor development and distinctive facies, such as Kabuki syndrome or fetal alcohol syndrome. The diagnosis for Williams' syndrome was established based on the clinical features and supported by the fluorescent in situ hybridization test. Williams' syndrome has been described as a rare, congenital disorder characterized by physical and developmental problems. Common features include characteristic "elfin-like" facies, supravalvular aortic stenosis, hypercalcemia, low birth weight, slow weight gain, feeding problems, impulsive and outgoing personality, limited spatial skills and motor control, and intellectual disability. Although individuals wi...Continue Reading

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Citations

Jan 1, 2008·Revue de stomatologie et de chirurgie maxillo-faciale·C VincentA David
Dec 26, 2015·The Journal of Craniofacial Surgery·Katinka KansyMichael Engel

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