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Trigonocephaly 2(TRIGNO2)

MedGen UID:
482604
Concept ID:
C3280974
Disease or Syndrome
Synonyms: CRANIOSYNOSTOSIS, METOPIC; TRIGNO2
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: FREM1
Cytogenetic location: 9p22.3
OMIM: 614485

Definition

Trigonocephaly occurs predominantly as a nonsyndromic craniosynostosis and has an estimated prevalence of between 1:15,000 and 1:68,000 live births (summary by Vissers et al., 2011). For a discussion of genetic heterogeneity of isolated trigonocephaly, see TRIGNO1 (190440). A syndromic form of trigonocephaly is associated with monosomy for an 8-Mb interval of chromosome 9p22.3 (see 158170). [from OMIM]

Clinical features

Trigonocephaly
MedGen UID:
504405
Concept ID:
CN000235
Finding
Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Trigonocephaly
MedGen UID:
504405
Concept ID:
CN000235
Finding
Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.

Recent clinical studies

Etiology

Anand A, Campion NJ, Cheshire J, Haigh T, Leckenby J, Nishikawa H, White N
J Craniofac Surg 2013 Jan;24(1):304-8. doi: 10.1097/SCS.0b013e318272dacb. PMID: 23348306
Agochukwu NB, Solomon BD, Muenke M
Childs Nerv Syst 2012 Sep;28(9):1447-63. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1756-2. [Epub ahead of print] PMID: 22872262Free PMC Article
Nagasao T, Miyamoto J, Jiang H, Kaneko T, Tamaki T
Cleft Palate Craniofac J 2011 Mar;48(2):190-6. Epub 2009 Oct 28 doi: 10.1597/09-027. [Epub ahead of print] PMID: 21388299
Ozlen F, Kafadar AM, Abuzayed B, Ulu MO, Isler C, Dashti R, Erdincler P
J Neurosurg Pediatr 2011 Mar;7(3):300-10. doi: 10.3171/2010.12.PEDS10359. PMID: 21361772
Starr JR, Lin HJ, Ruiz-Correa S, Cunningham ML, Ellenbogen RG, Collett BR, Kapp-Simon KA, Speltz ML
Neurosurgery 2010 Aug;67(2):408-15; discussion 415-6. doi: 10.1227/01.NEU.0000371992.72539.8B. PMID: 20644427Free PMC Article

Diagnosis

Roscioli T, Elakis G, Cox TC, Moon DJ, Venselaar H, Turner AM, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk EP, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann ML, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès LC, Collins FA, Wilson MJ, Savarirayan R, Tan TY, Amor DJ, McGillivray G, White SM, Glass IA, David DJ, Anderson PJ, Gianoutsos M, Buckley MF
Am J Med Genet C Semin Med Genet 2013 Nov;163C(4):259-70. Epub 2013 Oct 11 doi: 10.1002/ajmg.c.31378. [Epub ahead of print] PMID: 24127277
Passariello A, De Brasi D, Defferrari R, Genesio R, Tufano M, Mazzocco K, Capasso M, Migliorati R, Martinsson T, Siani P, Nitsch L, Tonini GP
Eur J Med Genet 2013 Nov;56(11):626-34. Epub 2013 Sep 13 doi: 10.1016/j.ejmg.2013.08.005. [Epub ahead of print] PMID: 24035971
Janssen A, Hosen MJ, Jeannin P, Coucke PJ, De Paepe A, Vanakker OM
Am J Med Genet A 2013 Sep;161A(9):2352-7. Epub 2013 Aug 5 doi: 10.1002/ajmg.a.36077. [Epub ahead of print] PMID: 23918290
Agochukwu NB, Solomon BD, Muenke M
Childs Nerv Syst 2012 Sep;28(9):1447-63. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1756-2. [Epub ahead of print] PMID: 22872262Free PMC Article
Ozlen F, Kafadar AM, Abuzayed B, Ulu MO, Isler C, Dashti R, Erdincler P
J Neurosurg Pediatr 2011 Mar;7(3):300-10. doi: 10.3171/2010.12.PEDS10359. PMID: 21361772

Therapy

van Wijk RM, van Vlimmeren LA, Groothuis-Oudshoorn CG, Van der Ploeg CP, Ijzerman MJ, Boere-Boonekamp MM
BMJ 2014 May 1;348:g2741. PMID: 24784879Free PMC Article
Nilsson D, Svensson J, Korkmaz BA, Nelvig H, Tisell M
J Neurosurg Pediatr 2013 Nov;12(5):483-90. Epub 2013 Sep 13 doi: 10.3171/2013.8.PEDS1370. [Epub ahead of print] PMID: 24032988
Engel M, Castrillon-Oberndorfer G, Hoffmann J, Freudlsperger C
J Plast Reconstr Aesthet Surg 2012 Sep;65(9):1246-51. Epub 2012 Apr 23 doi: 10.1016/j.bjps.2012.03.038. [Epub ahead of print] PMID: 22534123
Starr JR, Lin HJ, Ruiz-Correa S, Cunningham ML, Ellenbogen RG, Collett BR, Kapp-Simon KA, Speltz ML
Neurosurgery 2010 Aug;67(2):408-15; discussion 415-6. doi: 10.1227/01.NEU.0000371992.72539.8B. PMID: 20644427Free PMC Article
Lajeunie E, Le Merrer M, Marchac D, Renier D
Am J Med Genet 1998 Jan 13;75(2):211-5. PMID: 9450889

Prognosis

Roscioli T, Elakis G, Cox TC, Moon DJ, Venselaar H, Turner AM, Le T, Hackett E, Haan E, Colley A, Mowat D, Worgan L, Kirk EP, Sachdev R, Thompson E, Gabbett M, McGaughran J, Gibson K, Gattas M, Freckmann ML, Dixon J, Hoefsloot L, Field M, Hackett A, Kamien B, Edwards M, Adès LC, Collins FA, Wilson MJ, Savarirayan R, Tan TY, Amor DJ, McGillivray G, White SM, Glass IA, David DJ, Anderson PJ, Gianoutsos M, Buckley MF
Am J Med Genet C Semin Med Genet 2013 Nov;163C(4):259-70. Epub 2013 Oct 11 doi: 10.1002/ajmg.c.31378. [Epub ahead of print] PMID: 24127277
Anand A, Campion NJ, Cheshire J, Haigh T, Leckenby J, Nishikawa H, White N
J Craniofac Surg 2013 Jan;24(1):304-8. doi: 10.1097/SCS.0b013e318272dacb. PMID: 23348306
Agochukwu NB, Solomon BD, Muenke M
Childs Nerv Syst 2012 Sep;28(9):1447-63. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1756-2. [Epub ahead of print] PMID: 22872262Free PMC Article
Ozlen F, Kafadar AM, Abuzayed B, Ulu MO, Isler C, Dashti R, Erdincler P
J Neurosurg Pediatr 2011 Mar;7(3):300-10. doi: 10.3171/2010.12.PEDS10359. PMID: 21361772
Starr JR, Lin HJ, Ruiz-Correa S, Cunningham ML, Ellenbogen RG, Collett BR, Kapp-Simon KA, Speltz ML
Neurosurgery 2010 Aug;67(2):408-15; discussion 415-6. doi: 10.1227/01.NEU.0000371992.72539.8B. PMID: 20644427Free PMC Article

Clinical prediction guides

Passariello A, De Brasi D, Defferrari R, Genesio R, Tufano M, Mazzocco K, Capasso M, Migliorati R, Martinsson T, Siani P, Nitsch L, Tonini GP
Eur J Med Genet 2013 Nov;56(11):626-34. Epub 2013 Sep 13 doi: 10.1016/j.ejmg.2013.08.005. [Epub ahead of print] PMID: 24035971
Avila M, Kirchhoff M, Marle N, Hove HD, Chouchane M, Thauvin-Robinet C, Masurel A, Mosca-Boidron AL, Callier P, Mugneret F, Kjaergaard S, Faivre L
Am J Med Genet A 2013 Jul;161A(7):1594-8. Epub 2013 May 22 doi: 10.1002/ajmg.a.35970. [Epub ahead of print] PMID: 23704076
Anand A, Campion NJ, Cheshire J, Haigh T, Leckenby J, Nishikawa H, White N
J Craniofac Surg 2013 Jan;24(1):304-8. doi: 10.1097/SCS.0b013e318272dacb. PMID: 23348306
Ozlen F, Kafadar AM, Abuzayed B, Ulu MO, Isler C, Dashti R, Erdincler P
J Neurosurg Pediatr 2011 Mar;7(3):300-10. doi: 10.3171/2010.12.PEDS10359. PMID: 21361772
Starr JR, Lin HJ, Ruiz-Correa S, Cunningham ML, Ellenbogen RG, Collett BR, Kapp-Simon KA, Speltz ML
Neurosurgery 2010 Aug;67(2):408-15; discussion 415-6. doi: 10.1227/01.NEU.0000371992.72539.8B. PMID: 20644427Free PMC Article

Recent systematic reviews

Wes AM, Paliga JT, Goldstein JA, Whitaker LA, Bartlett SP, Taylor JA
Plast Reconstr Surg 2014 Jun;133(6):1453-64. doi: 10.1097/PRS.0000000000000223. PMID: 24867728
Fearon JA
Plast Reconstr Surg 2014 May;133(5):1261-75. doi: 10.1097/PRS.0000000000000093. PMID: 24776557
Saltaji H, Altalibi M, Major MP, Al-Nuaimi MH, Tabbaa S, Major PW, Flores-Mir C
J Oral Maxillofac Surg 2014 May;72(5):959-72. Epub 2013 Oct 9 doi: 10.1016/j.joms.2013.09.039. [Epub ahead of print] PMID: 24280172
Czerwinski M, Kolar JC, Fearon JA
Plast Reconstr Surg 2011 Oct;128(4):955-61. doi: 10.1097/PRS.0b013e3182268ca6. PMID: 21681124
Collmann H, Sörensen N, Krauss J
Childs Nerv Syst 1996 Nov;12(11):664-8. PMID: 9118128

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