title: Acrocephalosyndactyly, Apert type, in a newborn: Cerebral sonography.
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.
authors: Advanced School of Ultrasonography in Pediatrics and Neonatology, Ospedali Riuniti di Bergamo, Italy.
authors: C
authors: C
authors: Poggiani
authors: C
authors: C
authors: Zambelloni
authors: A
authors: A
authors: Auriemma
authors: A
authors: A
authors: Colombo
keywords: Acrocephalosyndactyly; Apert syndrome; Intracranial morphology; Ultrasound
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