Articles
31 October 2013
Vol. 35 No. 5 (2013)
https://doi.org/10.4081/pmc.2013.33

Turner-like Syndrome: a case report

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Blackfan-Diamond anemia, Turner phenotype, RPL5 mutation
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Authors

M.R. Velletri
zirillig@gmail.com
Dipartimento di Pediatria, Università di Messina, Messina, Italy.
M. Valenzise
Dipartimento di Pediatria, Università di Messina, Messina, Italy.
M. Wasniewska
Dipartimento di Pediatria, Università di Messina, Messina, Italy.
S. Arasi
Dipartimento di Pediatria, Università di Messina, Messina, Italy.
A. Santisi
Dipartimento di Pediatria, Università di Messina, Messina, Italy.
M. Romeo
Dipartimento di Pediatria, Università di Messina, Messina, Italy.
E. Pitrolo
Dipartimento di Pediatria, Università di Messina, Messina, Italy.
S. Santucci
Dipartimento di Pediatria, Università di Messina, Messina, Italy.
D. Corica
Dipartimento di Pediatria, Università di Messina, Messina, Italy.
R. Crisafulli
Dipartimento di Pediatria, Università di Messina, Messina, Italy.
G. Zirilli
Dipartimento di Pediatria, Università di Messina, Messina, Italy.
A prepubescent 11 year-old girl came to our attention for short stature. Auxological evaluation showed peculiar phenotype. In order to exclude Turner syndrome standard karyotype was performed with normal result. Because of anemia and selective deficiency of the erythroid lineage further investigations were performed and a diagnosis of Blackfan-Diamond anemia was made.

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Turner-like Syndrome: a case report. (2013). La Pediatria Medica E Chirurgica, 35(5). https://doi.org/10.4081/pmc.2013.33

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