Literature DB >> 16933282

Prenatal diagnosis of a possible new middle interhemispheric variant of holoprosencephaly using sonographic and magnetic resonance imaging.

O Picone1, R Hirt, B Suarez, A Coulomb, G Tachdjian, R Frydman, M-V Senat.   

Abstract

A peculiar subtype of holoprosencephaly, middle interhemispheric variant (MIH), which is characterized by a partial posterior interhemispheric fusion of the brain, has been described in children. We describe the features of a case of a possible new MIH at 26 weeks of gestation, diagnosed using prenatal sonography and magnetic resonance imaging and confirmed by postmortem examination. This malformation of the brain was associated with an unusual appearance of the corpus callosum and rare chromosomal abnormality: a 45X/46,XX/47,XX,+ 18 mosaicism.

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Year:  2006        PMID: 16933282     DOI: 10.1002/uog.2851

Source DB:  PubMed          Journal:  Ultrasound Obstet Gynecol        ISSN: 0960-7692            Impact factor:   7.299


  3 in total

1.  Holoprosencephaly with neurogenic hypernatremia: a new case.

Authors:  S Savasta; S Chiapedi; E Borali; S Perrini; V Sepe; S Caimmi; G L Marseglia
Journal:  Childs Nerv Syst       Date:  2007-08-07       Impact factor: 1.475

2.  Middle Interhemispheric Variant of Holoprosencephaly - Presenting as Non-Visualized Cavum Septum Pellucidum and An Interhemispheric Cyst in A 19-Weeks Fetus.

Authors:  Akhila Vasudeva; Shalini S Nayak; Rajagopal Kadavigere; Katta M Girisha; Jyothi Shetty
Journal:  J Clin Diagn Res       Date:  2015-09-01

Review 3.  Holoprosencephaly.

Authors:  Christèle Dubourg; Claude Bendavid; Laurent Pasquier; Catherine Henry; Sylvie Odent; Véronique David
Journal:  Orphanet J Rare Dis       Date:  2007-02-02       Impact factor: 4.123

  3 in total

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