Seckel syndrome has been described as the prototype of the primordial bird-headed type of dwarfism. Since Seckel originally defined the disorder, less than 60 cases have been reported. In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities have been described in the cardiovascular, hematopoietic, endocrine, and central nervous systems.
View Article and Find Full Text PDFA fifteen-year-old white boy with a history of seizure disorder, borderline cognitive function, academic difficulty, and explosive temper outbursts was evaluated for asymptomatic flesh-colored papules appearing on his chest, abdomen, and axillae. Examination of a biopsy specimen showed eruptive vellus hair cysts; results of genetic, endocrinologic, and neuropsychiatric evaluation revealed abnormalities suggestive of a previously undescribed neurocutaneous syndrome.
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