Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.

Piero Pavone, Martino Ruggieri, Ilaria Lombardo, Jyotsna Sudi, Roberta Biancheri, Danilo Castellano-Chiodo, Andrea Rossi, Gemma Incorpora, Norma J. Nowak, Susan L. Christian, Lorenzo Pavone, William B. Dobyns

Research output: Contribution to journalArticlepeer-review

Abstract

Currarino syndrome (CS) is a peculiar form of caudal regression syndrome [also known as autosomal dominant sacral agenesis (OMIM no. 176450)] characterised by (1) partial absence of the sacrum with intact first sacral vertebra, (2) a pre-sacral mass and (3) anorectal anomalies (Currarino triad). We studied a 3-year-old girl with Currarino triad who had additional systemic features and performed array comparative genomic hybridisation to look for chromosomal abnormalities. This girl had the typical spectrum of anomalies of the CS including (a) partial sacral agenesis (hemisacrum with remnants of only sacral S1-S2 vertebrae and a residual S3 vertebral body) associated with complete coccygeal agenesis, (b) pre-intrasacral dermoid, (c) intra-dural lipoma, (d) ectopic anus and (e) tethered cord. She had, in addition, pre- and post-natal growth impairment (

Original languageEnglish
Pages (from-to)475-481
Number of pages7
JournalEuropean Journal of Pediatrics
Volume169
Issue number4
DOIs
Publication statusPublished - Apr 2010

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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