Literature DB >> 23010458

Prenatal ultrasound diagnosis of holoprosencephaly and associated anomalies.

Hemang D Chaudhari1, Gurudatt Thakkar, Parth Darji, Pratik Khokhani.   

Abstract

Holoprosencephaly is a rare spectrum of cerebral and facial malformations resulting from incomplete division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemisphere. Holoprosencephaly spectrum in the fetus is often associated with other anomalies, particularly of the face and extremities. Here we present three different cases of patients with holoprosencephaly who failed to attain routine sonography during 11-20 weeks owing to some unavoidable circumstances. Two of them were diagnosed during the third trimester and one in the late second trimester. Ultrasound findings of associated anomalies were confirmed after a clinical examination of the delivered fetuses.

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Mesh:

Year:  2012        PMID: 23010458      PMCID: PMC4542616          DOI: 10.1136/bcr-03-2012-6129

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  8 in total

Review 1.  Genetics of ventral forebrain development and holoprosencephaly.

Authors:  M Muenke; P A Beachy
Journal:  Curr Opin Genet Dev       Date:  2000-06       Impact factor: 5.578

2.  THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY).

Authors:  W DEMYER; W ZEMAN; C G PALMER
Journal:  Pediatrics       Date:  1964-08       Impact factor: 7.124

3.  The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

Authors:  L Nanni; J E Ming; M Bocian; K Steinhaus; D W Bianchi; C Die-Smulders; A Giannotti; K Imaizumi; K L Jones; M D Campo; R A Martin; P Meinecke; M E Pierpont; N H Robin; I D Young; E Roessler; M Muenke
Journal:  Hum Mol Genet       Date:  1999-12       Impact factor: 6.150

4.  Neuroanatomy of holoprosencephaly as predictor of function: beyond the face predicting the brain.

Authors:  L L Plawner; M R Delgado; V S Miller; E B Levey; S L Kinsman; A J Barkovich; E M Simon; N J Clegg; V T Sweet; E E Stashinko; J S Hahn
Journal:  Neurology       Date:  2002-10-08       Impact factor: 9.910

5.  Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations.

Authors:  Emanuele Leoncini; Giovanni Baranello; Iêda M Orioli; Göran Annerén; Marian Bakker; Fabrizio Bianchi; Carol Bower; Mark A Canfield; Eduardo E Castilla; Guido Cocchi; Adolfo Correa; Catherine De Vigan; Berenice Doray; Marcia L Feldkamp; Miriam Gatt; Lorentz M Irgens; R Brian Lowry; Alice Maraschini; Robert Mc Donnell; Margery Morgan; Osvaldo Mutchinick; Simone Poetzsch; Merilyn Riley; Annukka Ritvanen; Elisabeth Robert Gnansia; Gioacchino Scarano; Antonin Sipek; Romano Tenconi; Pierpaolo Mastroiacovo
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2008-08

6.  Middle interhemispheric variant of holoprosencephaly: a distinct cliniconeuroradiologic subtype.

Authors:  A J Lewis; E M Simon; A J Barkovich; N J Clegg; M R Delgado; E Levey; J S Hahn
Journal:  Neurology       Date:  2002-12-24       Impact factor: 9.910

7.  Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.

Authors:  Erich Roessler; Yang-Zhu Du; Jose L Mullor; Esther Casas; William P Allen; Gabriele Gillessen-Kaesbach; Elizabeth R Roeder; Jeffrey E Ming; Ariel Ruiz i Altaba; Maximilian Muenke
Journal:  Proc Natl Acad Sci U S A       Date:  2003-10-27       Impact factor: 11.205

Review 8.  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

  8 in total

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