Dwarfism Research Today is a free monthly online journal that collates and summarizes the latest research about Dwarfism, including details on genetics, diet, mental and motor development.

Neonatal hepatitis in 2 siblings with Seckel syndrome.

Denz K, Kontaş O, akçakuş M

Department of Pathology, Erciyes Univeristy, Faculty of Medicine, Kayseri, Turkey. kdeniz@erciyes.edu.tr

Seckel syndrome was described as the prototype of the primordial bird-head type of dwarfism. We report 2 cases of Seckel syndrome in siblings. Both cases showed peculiar phenotypic features. Autopsy was performed and microscopic examination of the livers displayed histologic features of neonatal hepatitis. In addition, our younger patient had central nervous system anomalies such as agenesis of corpus callosum, cerebral cyst, and primitive convolutional pattern. No previous reports of liver disease exist in patients with Seckel syndrome. The pathologic findings of such an unusual association and a review of literature are presented.

Published 30 June 2006 in Pediatr Dev Pathol, 9(1): 81-5.
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