Triple X Syndrome with Congenital Anomalies: A Rare Case Report
E. Bahous *
Neonatology and Neonatal Intensive Care Unit, Mohamed V Military Instruction Hospital, Rabat, Morocco.
S. Saghir
Neonatology and Neonatal Intensive Care Unit, Mohamed V Military Instruction Hospital, Rabat, Morocco.
A. Ayad
Neonatology and Neonatal Intensive Care Unit, Mohamed V Military Instruction Hospital, Rabat, Morocco.
M. Sellouti
Neonatology and Neonatal Intensive Care Unit, Mohamed V Military Instruction Hospital, Rabat, Morocco.
R. Abilkassim
Neonatology and Neonatal Intensive Care Unit, Mohamed V Military Instruction Hospital, Rabat, Morocco.
A. Agadr
Neonatology and Neonatal Intensive Care Unit, Mohamed V Military Instruction Hospital, Rabat, Morocco.
*Author to whom correspondence should be addressed.
Abstract
Triple X syndrome is a relatively common chromosomal abnormality affecting 0.1% of live-born girls. Most of these girls have a normal phenotype and only a few cases have birth defects. The diagnosis of triple X syndrome may never be made because the clinical manifestations are not important to prompt the request for a karyotype. Prenatal diagnosis is often made before advanced maternal age. Parents of triple X children should be counseled regarding the significance of this syndrome and its prognosis. We report a case of triple X syndrome diagnosed in a five-day-old female newborn, with facial asymmetry, a palpebral coloboma and bilateral auricular appendages, the diagnosis was established by cytogenetic study on a constitutional karyotype which showed profile 47, XXX. Informed parental consent is required.
Keywords: Palpebral coloboma, auricular appendages, newborn female, prenatal diagnosis, 47, XXX