Literature DB >> 20104614

Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature.

Manu S Raam1, Benjamin D Solomon, Stavit A Shalev, Maximilian Muenke.   

Abstract

Holoprosencephaly (HPE) and craniosynostosis are separate conditions that have occasionally been observed to occur simultaneously in the same patient. Here, we compile patients with both conditions who have been documented in the literature thus far; moreover, we report on two additional siblings who have not been previously described. We also compare the clinical features of these patients and discuss the previously hypothesized possibility of an independent association including both HPE and craniosynostosis. 2010 Wiley-Liss, Inc.

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Year:  2010        PMID: 20104614      PMCID: PMC2814953          DOI: 10.1002/ajmg.c.30234

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN: 1552-4868            Impact factor:   3.908


  26 in total

1.  Holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo t(2;4) (q14.2;q35).

Authors:  A Corona-Rivera; J R Corona-Rivera; L Bobadilla-Morales; T A García-Cobian; E Corona-Rivera
Journal:  Am J Med Genet       Date:  2000-02-28

Review 2.  Editorial: perspectives on craniosynostosis.

Authors:  M Michael Cohen
Journal:  Am J Med Genet A       Date:  2005-08-01       Impact factor: 2.802

3.  FGF signalling generates ventral telencephalic cells independently of SHH.

Authors:  Grigoriy Gutin; Marie Fernandes; Laura Palazzolo; Hunki Paek; Kai Yu; David M Ornitz; Susan K McConnell; Jean M Hébert
Journal:  Development       Date:  2006-07-03       Impact factor: 6.868

4.  Sonic hedgehog signal peptide mutation in a patient with holoprosencephaly.

Authors:  M Kato; E Nanba; S Akaboshi; T Shiihara; A Ito; T Honma; K Tsuburaya; K Hayasaka
Journal:  Ann Neurol       Date:  2000-04       Impact factor: 10.422

5.  Holoprosencephaly and primary craniosynostosis: the Genoa syndrome.

Authors:  G Camera; M Lituania; M M Cohen
Journal:  Am J Med Genet       Date:  1993-12-01

6.  Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1-q14.2.

Authors:  Dezso David; Bárbara Marques; Cristina Ferreira; Paula Vieira; Alfredo Corona-Rivera; José Carlos Ferreira; Hans van Bokhoven
Journal:  Eur J Hum Genet       Date:  2009-02-18       Impact factor: 4.246

Review 7.  Sutural biology and the correlates of craniosynostosis.

Authors:  M M Cohen
Journal:  Am J Med Genet       Date:  1993-10-01

8.  Craniosynostosis in the Middle Pleistocene human Cranium 14 from the Sima de los Huesos, Atapuerca, Spain.

Authors:  Ana Gracia; Juan Luis Arsuaga; Ignacio Martínez; Carlos Lorenzo; José Miguel Carretero; José María Bermúdez de Castro; Eudald Carbonell
Journal:  Proc Natl Acad Sci U S A       Date:  2009-03-30       Impact factor: 11.205

Review 9.  The molecular genetics of holoprosencephaly.

Authors:  Erich Roessler; Maximilian Muenke
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-02-15       Impact factor: 3.908

10.  FGF-, BMP- and Shh-mediated signalling pathways in the regulation of cranial suture morphogenesis and calvarial bone development.

Authors:  H J Kim; D P Rice; P J Kettunen; I Thesleff
Journal:  Development       Date:  1998-04       Impact factor: 6.868

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  6 in total

Review 1.  The human calvaria: a review of embryology, anatomy, pathology, and molecular development.

Authors:  R Shane Tubbs; Anand N Bosmia; Aaron A Cohen-Gadol
Journal:  Childs Nerv Syst       Date:  2011-11-27       Impact factor: 1.475

Review 2.  Cranial sutures: a multidisciplinary review.

Authors:  Antonio Di Ieva; Emiliano Bruner; Jennilee Davidson; Patrizia Pisano; Thomas Haider; Scellig S Stone; Michael D Cusimano; Manfred Tschabitscher; Fabio Grizzi
Journal:  Childs Nerv Syst       Date:  2013-03-08       Impact factor: 1.475

Review 3.  Holoprosencephaly: recommendations for diagnosis and management.

Authors:  Emily F Kauvar; Maximilian Muenke
Journal:  Curr Opin Pediatr       Date:  2010-12       Impact factor: 2.856

4.  Syndromes associated with holoprosencephaly.

Authors:  Paul Kruszka; Maximilian Muenke
Journal:  Am J Med Genet C Semin Med Genet       Date:  2018-05-17       Impact factor: 3.908

5.  The Clock Is Ticking - Brain Atrophy in Case of Acute Trauma?

Authors:  Alexandrina S Nikova; Georgios Sioutas; Konstantinos Kotopoulos; Dimitar Ganchev; Varvara Chatzipaulou; Theodossios Birbilis
Journal:  Korean J Neurotrauma       Date:  2019-10-23

6.  Sinus pericranii associated with syntelencephaly: a case report.

Authors:  Shuhei Fujino; Mikako Enokizono; Satoshi Ihara; Tatsuo Kono; Sahoko Miyama
Journal:  BMC Neurol       Date:  2022-08-25       Impact factor: 2.903

  6 in total

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