[Incontinentia pigmenti. Concerning 9 new cases, 2 of them associated with different genetic syndromes].
Nine girls with Incontinentia Pigmenti are presented, two of them associated to different genetic syndromes. All the patients are female, characteristic of genetic transmission, linked to dominant x, lethal for males; one of the patients also presents the Larsen Syndrome and another has got her illness associated to the Chotzen Syndrome; in these cases we can observe the coexistence of two syndromes, genetically determined. A revision of the clinical, histopathological and genetic characteristics of this disease is made.
D000015:Abnormalities, Multiple / Q000150:complications / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities; D003398:Craniosynostoses / Q000150:complications; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D004204:Joint Dislocations / Q000150:complications; D010375:Pedigree; D010859:Pigmentation Disorders / Q000150:complications / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome
Incontinencia pigmenti. Acerca de nueve observaciones, dos de ellas asociadas a diferentes síndromes genéticos.