Cleft palate in a patient with Williams' syndrome

Cleft lip or palate has not been reported in the medical literature as a pa rt of Williams' syndrome. We present a patient who had cleft palate among o ther congenital manifestations. This patient's immediate postnatal period c linically seemed to have a Pierre Robin sequence. With the development of t he craniofacial complex, microgenia and micrognathia with glossoptosis grad ually became apparent. On further assessment, the patient showed other clin ical findings that suggested a syndromic association. This required a compl ete evaluation to discard other conditions that present with low psychomoto r development and distinctive facies, such as Kabuki syndrome or fetal alco hol syndrome. The diagnosis for Williams' syndrome was established based on the clinical features and supported by the fluorescent in situ hybridizati on test. Williams' syndrome has been described as a rare, congenital disord er characterized by physical and developmental problems. Common features in clude characteristic "elfin-like" facies, supravalvular aortic stenosis, hy percalcemia, low birth weight, slow weight gain, feeding problems, impulsiv e and outgoing personality, limited spatial skills and motor control, and i ntellectual disability. Although individuals with Williams' syndrome may sh ow competence in areas such as language, music, and interpersonal relations , their IQs are usually low and they are considered moderately to mildly re tarded.