Williams syndrome is a genetic disorder linked to cognitive and behavioral patterns of varying consistency; this study was conducted to clarify further the strengths and weaknesses of children with Williams syndrome. Fifteen subjects with the characteristic features of Williams syndrome were evaluated using the Stanford-Binet Intelligence Scale for… (More)
Angelman and Prader-Willi syndromes are clinically distinct neurobehavioral disorders most commonly resulting from large deletions of chromosome 15q11-q13. The deletions arise differentially during maternal or paternal gametogenesis, respectively. A subgroup of patients with either syndrome have no apparent deletion, and because many such patients with… (More)
The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation and characteristic dysmorphic features. We, thus, report a rare case of this syndrome in a 1-year-old child who presented with typical features of CFC syndrome.
A 27-year-old healthy man presented with non-itchy hyperpigmented skin lesions involving the trunk of duration 3 years. Examination revealed numerous coalescing, rough, slightly elevated brownish papules involving large areas of back, chest, and abdomen. There were no other cutaneous or systemic findings. Cutaneous biopsy was suggestive of verruca plana,… (More)