Literature DB >> 23396677

Acrocephalosyndactyly, Apert type, in a newborn: Cerebral sonography.

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


  5 in total

1.  Application of the three-dimensional maximum mode in prenatal diagnosis of Apert syndrome.

Authors:  Tilman Esser; Patrick Rogalla; Christian Bamberg; Karim D Kalache
Journal:  Am J Obstet Gynecol       Date:  2005-11       Impact factor: 8.661

2.  Prenatal ultrasonographic and molecular diagnosis of Apert syndrome.

Authors:  K Filkins; J F Russo; S Boehmer; M Camous; K A Przylepa; W Jiang; E W Jabs
Journal:  Prenat Diagn       Date:  1997-11       Impact factor: 3.050

3.  Using three-dimensional ultrasound to detect craniosynostosis in a fetus with Pfeiffer syndrome.

Authors:  B R Benacerraf; R Spiro; A G Mitchell
Journal:  Ultrasound Obstet Gynecol       Date:  2000-09       Impact factor: 7.299

4.  Echoencephalographic findings of Apert syndrome.

Authors:  D H Tilley; E I Bluth; J P Goldsmith; A J Kenney
Journal:  J La State Med Soc       Date:  2001-11

5.  Ultrasound diagnosis of craniosynostosis.

Authors:  Carolyn Miller; H Wolfgang Losken; Richard Towbin; A'Delbert Bowen; Mark P Mooney; Alex Towbin; Richard S Faix
Journal:  Cleft Palate Craniofac J       Date:  2002-01
  5 in total
  1 in total

1.  Ultrasound 2-D and 3-D diagnosis of Rubinstein-Taybi syndrome in a 21-week-old fetus.

Authors:  Francesco D'Ambrosi; Luisa Ronzoni; Roberta Villa; Stefano De Marinis; Giulia Emily Cetera; Chiara Maria Soldavini; Enrico Ferrazzi
Journal:  J Ultrasound       Date:  2020-06-18
  1 in total

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