title: Neonatal hepatitis in 2 siblings with Seckel syndrome.
abstract: 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.
authors.affiliation: Department of Pathology, Erciyes Univeristy, Faculty of Medicine, Kayseri, Turkey. kdeniz@erciyes.edu.tr
authors.forename: Kemal
authors.initials: K
authors.lastname: Deniz
authors.forename: Olgun
authors.initials: O
authors.lastname: Kontaş
authors.forename: M
authors.initials: M
authors.lastname: akçakuş
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D006505:Hepatitis / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D008099:Liver / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000235:genetics / Q000473:pathology*; D009421:Nervous System Malformations / Q000235:genetics / Q000473:pathology*; D035781:Siblings; D013577:Syndrome