Sensorineural hearing-loss in the Smith-Lemli-Opitz syndrome

Federica Di Berardino, Dario Alpini, Umberto Ambrosetti, Chiara Amadeo, Antonio Cesarani

Research output: Contribution to journalArticlepeer-review

Abstract

The Smith-Lemli-Opitz (SLO) syndrome is an autosomal recessive disorder caused by a mutation in the 7-dehydrocholesterol reductase gene, which in turn provokes a defect in cholesterol biosynthesis. SLO is characterised by a specific physical, behavioural and developmental pattern, and the main clinical features include minor facial anomalies, multiple congenital anomalies, failure to thrive and mental retardation. This report describes a case in a newborn child with the typical clinical signs and symptoms of SLO syndrome, who was also affected by profound bilateral sensorineural deafness, and revises the literature suggesting that audiological examination of patients with SLO syndrome may be useful.

Original languageEnglish
Pages (from-to)169-172
Number of pages4
JournalInternational Journal of Pediatric Otorhinolaryngology Extra
Volume2
Issue number3
DOIs
Publication statusPublished - Sep 2007

Keywords

  • Newborn hearing screening
  • RSH
  • Sensorineural hearing loss
  • SLO
  • Smith-Lemli-Opitz syndrome

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Pediatrics, Perinatology, and Child Health

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