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Clinical and genetic approach to the dysmorphic child

Luigi Tarani, Ginevra Micangeli, Debora Rasio, Silvia Ottombrino, Natascia Liberati, Diego De Angelis, Valentina Carito, Antonio Greco, Mauro Ceccanti, Marco Fiore


The child affected by a malformative syndrome represents a care challenge for the pediatrician. He is in fact the heart of the multidisciplinary team that has to manage the patient, trying to control the complications of his/her syndrome and promoting the correct psychophysical development. What we must not forget is that the pediatrician provides a continuous support to the child`s family, assisting them from the diagnosis to the management of problems related to the syndrome. This encourages the continuous follow-up of these children remembering also that the pediatrician is fundamental in the clinical management of the syndrome and for facilitating the social integration of these children.


Rare disease, birth defect, genetic syndrome, diagnosis, pediatrician, treatment

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About The Authors

Luigi Tarani
Sapienza University of Rome, Italy

Department of Pediatrics, Medical Faculty

Ginevra Micangeli
Sapienza University of Rome, Italy

Department of Pediatrics, Medical Faculty

Debora Rasio
San Raffaele Roma, Open University, Rome, Italy

Silvia Ottombrino
Sapienza University of Rome, Italy

Department of Pediatrics, Medical Faculty

Natascia Liberati
Sapienza University of Rome, Italy

Department of Pediatrics, Medical Faculty

Diego De Angelis
Sapienza University of Rome, Italy

Department of Pediatrics, Medical Faculty

Valentina Carito
Institute of Cell Biology and Neurobiology, IBCN-CNR, Rome, Italy

Antonio Greco
Sapienza University of Rome, Italy

Department of Sense Organs

Mauro Ceccanti
Sapienza University of Rome, Italy

Centro Riferimento Alcologico Regione Lazio

Marco Fiore
Institute of Cell Biology and Neurobiology, IBCN-CNR, Rome, Italy

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