Dysmorphic Syndromes with Prevalent Involvement of Long Bones

This group includes congenital dysmorphic syndromes in which skeletal anomalies of the limbs prevail in association with anomalies of other organs and systems. The most frequent syndromes in this group are aplasia of the tibia with ectrodactyly, humero-spinal dysostosis, acro-pectoro-vertebral dysplasia, anonychia-ectrodactyly syndrome, Adams-Oliver syndrome, Carraro syndrome, Coffin-Siris syndrome, Klein-Waardenburg syndrome, Poland syndrome, Roberts syndrome, Rubinstein-Taybi syndrome, Townes-Brocks syndrome, DOORS syndrome, femorofacial syndrome, and Pallister ulnar-mammary syndrome. The message is to perform a careful study of all four limbs. It is true that the alterations of the hand are difficult/impossible to observe, but the recognition of the alteration of one or more long bones must lead to requesting of genetic counseling and study of the karyotype.