hrp0084p2-464 | Growth | ESPE2015

Infant with Phenotype Suggestive of Silver-Russell Syndrome and Study of Normal Methylation: Consider 12q14.3q15 Microdeletion Syndrome

Vargas Natalia , Galo Blanca Lidia , Campos Ariadna , Vendrell Teresa , Plaja Antonio , Yeste Diego

Background: The 12q14.3q15 microdeletion syndrome is a rare entity of which only 16 new cases have been described to date. The syndrome consists of the association of severe pre- and postnatal growth retardation, proportional short stature, psychomotor retardation and osteopoikilosis. The phenotypic appearance of these patients poses a differential diagnosis with Silver-Russell syndrome, among other entities.Clinical description: A 10-month-old boy was r...

hrp0084p2-481 | Growth | ESPE2015

Klinefelter Syndrome with Short Stature and Microcephaly: An Unusual Combination

Galo Blanca Lidia , Vargas Natalia , Clemente Maria , Vendrell Teresa , Plaja Alberto , Yeste Diego

Background: Patients with Klinefelter syndrome (SK) have a 47, XXY karyotype and tall stature as a result of overexpression of the SHOX gene. The case of a patient with peculiar phenotype, microcephaly, proportional short stature and 47, XXY karyotype with a deletion in band p11.3 of one X chromosome is presented.Clinical description: A 2-year, 4 month-old boy was referred for study of growth retardation. The product of a first gestation of 39 weeks of h...