Clival encephalocele and 5q15 deletion: a case report.
A preterm neonate presenting with respiratory distress after birth was found to have a clival encephalocele, which is a variant of a basal encephalocele, and hypoplasia of the cerebellum. Genetic studies revealed a small deletion of the long arm of chromosome 5: 5q15 deletion. We report a rare variant of a basal encephalocele with a cerebellar malformation and 5q15 deletion.
Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA surasak1@aol.com.
Surasak
S
Puvabanditsin
Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
Imran
I
Malik
Department of Surgery, SUNY Downstate Medical Center, Brooklyn, New York, NY, USA.
Eugene
E
Garrow
Department of Obstetrics and Genecology, Rutgers RWJ Medical School, New Brunswick, NJ, USA.
Lissa
L
Francois
Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
Rajeev
R
Mehta
D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002895:Chromosomes, Human, Pair 5; D003388:Cranial Fossa, Posterior; D004677:Encephalocele / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D017384:Sequence Deletion; D014427:Twins; D014463:Ultrasonography
5q15 deletion; clivus; congenital anomalies; encephalocele; neonate