| Literature DB >> 23396677 |
C Poggiani1, C Zambelloni, A Auriemma, A Colombo.
Abstract
We describe the clinical and cerebral ultrasonographic features of a rare case of type 1 acrocephalosyndactyly (Apert syndrome). The patient was a newborn male whose twin had died in utero. Most cases of Apert syndrome are sporadic, although autosomal dominant inheritance has also been reported. Diagnosis is based on physical examination together with imaging data. Since Apert syndrome can give rise to numerous CNS abnormalities, affected newborns should undergo echoencephalography for more complete characterization of their malformations.Entities:
Keywords: Acrocephalosyndactyly; Apert syndrome; Intracranial morphology; Ultrasound
Year: 2007 PMID: 23396677 PMCID: PMC3478714 DOI: 10.1016/j.jus.2007.05.002
Source DB: PubMed Journal: J Ultrasound ISSN: 1876-7931