Literature DB >> 3981579

Trigonocephaly and the Opitz C syndrome.

C Sargent, J Burn, M Baraitser, M E Pembrey.   

Abstract

We present 12 cases of trigonocephaly of which six were associated with other malformations. On the basis of this experience we examine the diagnostic criteria for the presumed autosomal recessive trigonocephaly C syndrome.

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Mesh：

Year:  1985        PMID： 3981579      PMCID： PMC1049376          DOI： 10.1136/jmg.22.1.39

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

1.  Trigonocephaly. Identity and surgical treatment.

Authors:  F M ANDERSON; J L GWINN; J C TODT
Journal:  J Neurosurg       Date:  1962-09       Impact factor: 5.115

2.  Orbital hypotelorism, arhinencephaly, and trigonocephaly.

Authors:  G CURRARINO; F N SILVERMAN
Journal:  Radiology       Date:  1960-02       Impact factor: 11.105

3.  The Opitz trigonocephaly syndrome. A case report.

Authors:  F Oberklaid; D M Danks
Journal:  Am J Dis Child       Date:  1975-11

4.  The C syndrome.

Authors:  M Preus; W J Alexander; F C Fraser
Journal:  Birth Defects Orig Artic Ser       Date:  1975

5.  Further delineation of the C (trigonocephaly) syndrome.

Authors:  R M Antley; D S Hwang; W Theopold; R J Gorlin; T Steeper; D Pitt; D M Danks; E McPherson; H Bartels; H R Wiedemann; J M Opitz
Journal:  Am J Med Genet       Date:  1981
  5 in total
  10 in total

1.  Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).

Authors:  E Holinski-Feder; E Reyniers; S Uhrig; A Golla; J Wauters; P Kroisel; P Bossuyt; I Rost; K Jedele; H Zierler; S Schwab; D Wildenauer; M R Speicher; P J Willems; T Meitinger; R F Kooy
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

2.  Surgical correction of metopic synostosis.

Authors:  Henry E Aryan; Rahul Jandial; Burak M Ozgur; Samuel A Hughes; Hal S Meltzer; Min S Park; Michael L Levy
Journal:  Childs Nerv Syst       Date:  2005-02-16       Impact factor: 1.475

3.  Dilated cardiomyopathy in a 3-year-old girl with a terminal deletion, 46,XX,del(3)(q27-qter), of the long arm of chromosome 3.

Authors:  Hideaki Senzaki; Mika Inui; Shin-Ichi Ban; Satoshi Masutani; Mofeed Morsy; Toshiki Kobayashi; Hironori Nagasaka; Nozomu Sasaki; Shunei Kyo; Yuji Yokote
Journal:  Eur J Pediatr       Date:  2003-03-27       Impact factor: 3.183

Review 4.  Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features.

Authors:  L A Brueton; J C Barber; S M Huson; R M Winter
Journal:  J Med Genet       Date:  1989-11       Impact factor: 6.318

5.  The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region.

Authors:  Majed J Dasouki; Gerald H Lushington; Karine Hovanes; James Casey; Mereceds Gorre
Journal:  Am J Med Genet A       Date:  2011-05-27       Impact factor: 2.802

6.  Interstitial deletion of band 3q25.

Authors:  A M Slavotinek; S M Huson; M Fitchett
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

7.  Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.

Authors:  Karin Weiss; Kristen Wigby; Madeleine Fannemel; Lindsay B Henderson; Natalie Beck; Neeti Ghali; D D D Study; Britt-Marie Anderlid; Johanna Lundin; Ada Hamosh; Marilyn C Jones; Sondhya Ghedia; Maximilian Muenke; Paul Kruszka
Journal:  Eur J Hum Genet       Date:  2017-05-17       Impact factor: 4.246

8.  Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.

Authors:  Tadashi Kaname; Kumiko Yanagi; Yasutsugu Chinen; Yoshio Makita; Nobuhiko Okamoto; Hiroki Maehara; Ichiro Owan; Fuminori Kanaya; Yoshiaki Kubota; Yuichi Oike; Toshiyuki Yamamoto; Kenji Kurosawa; Yoshimitsu Fukushima; Axel Bohring; John M Opitz; Ko-Ichiro Yoshiura; Norio Niikawa; Kenji Naritomi
Journal:  Am J Hum Genet       Date:  2007-08-27       Impact factor: 11.025

Review 9.  Metopic synostosis.

Authors:  Jacques van der Meulen
Journal:  Childs Nerv Syst       Date:  2012-08-08       Impact factor: 1.475

10.  Clinical characteristics and surgical decision making for infants with metopic craniosynostosis in conjunction with other congenital anomalies.

Authors:  Craig B Birgfeld; Carrie L Heike; Babette S Saltzman; Anne V Hing
Journal:  Plast Reconstr Surg Glob Open       Date:  2013-11-07
  10 in total

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