A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis
| Autor: | Fabio Triulzi, Elisa Scola, Paola Francesca Ajmone, Martina Buscemi, Viola Giulia Carlina Fergnani, Fabio Mosca, Silvana Gangi, Lorenzo Colombo, Roberta Villa, Claudia Cinnante, Odoardo Picciolini, Beatrice Letizia Crippa, Maria Francesca Bedeschi, Cesare Rossi |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Male Pediatrics medicine.medical_specialty Primary care 030105 genetics & heredity Diagnosis Differential 03 medical and health sciences CHARGE syndrome Temporal bone medicine Humans Retrospective Studies business.industry Maternal and child health Medical record Research lcsh:RJ1-570 Infant Newborn lcsh:Pediatrics medicine.disease Key features Ear malformations 030104 developmental biology Early Diagnosis Italy Clinical diagnosis Female business |
| Zdroj: | Italian Journal of Pediatrics Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-7 (2020) |
| ISSN: | 1824-7288 |
| Popis: | Background An early diagnosis of CHARGE syndrome is challenging, especially for the primary care physicians who often take care of neonates with multiple congenital anomalies. Here we report eight cases of CHARGE syndrome whose diagnosis was made early in life with the intent to identify the most helpful features allowing a prompt clinical diagnosis. Methods Medical records of patients with CHARGE syndrome whose diagnosis was made at the Fondazione IRCCS Ca′ Granda Ospedale Maggiore Policlinico in Milan, Italy were retrospectively reviewed. Results Taken together, these patients reflect the considerable phenotypic variability of the syndrome; in one patient, the diagnosis was made immediately after birth because all the major criteria were met. In six patients, presenting with relatively nonspecific defects, a temporal bone computerized tomography scan was essential to achieve the correct diagnosis. In one patient, the diagnosis was made later than the others were. A careful examination revealed the presence of outer, middle, and inner ear anomalies: these elements, in the absence of any additional major criteria, represented for us an important diagnostic clue. Conclusions This article suggests that an accurate evaluation of the ear should be made every time CHARGE syndrome is considered as a likely diagnosis even when the standard criteria are not fulfilled. |
| Databáze: | OpenAIRE |
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