ABSTRACT
Atretic cephalocele is a clinicopathological entity, which is different from the common form of cephalocele. Its etiopathogenesis has not been completely explained and there are only two previous reports of familial recurrence. We report a Brazilian family with autosomal dominant inheritance with variable expressivity.
Subject(s)
Encephalocele/genetics , Genes, Dominant , Scalp/abnormalities , Adult , Aged , Alopecia/complications , Brazil , Child , Child, Preschool , Encephalocele/complications , Encephalocele/diagnosis , Family Characteristics , Female , Genetic Variation , Humans , Karyotyping , Male , Meningocele/pathology , Middle Aged , Pedigree , Phenotype , Strabismus/complicationsABSTRACT
Complex chromosome rearrangements (CCR) involving multiple breaks in two or more chromosomes are rare. We describe a girl with development delay and overgrowth who presents a nine-break apparently balanced de novo rearrangement involving chromosomes 1, 2, 3, 4 and 12, and a boy with developmental delay and seizures with a complex three-chromosome apparently balanced de novo rearrangement involving chromosomes 2, 7 and 13. The relationship between clinical abnormalities and apparently balanced rearrangements is discussed.
