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Trigonocephaly 2(TRIGNO2)

MedGen UID:
482604
•Concept ID:
C3280974
•
Congenital Abnormality
Synonym: TRIGNO2
 
Gene (location): FREM1 (9p22.3)
 
Monarch Initiative: MONDO:0013774
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

From HPO
Global developmental delay
MedGen UID:
107838
•Concept ID:
C0557874
•
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
See: Feature record | Search on this feature
Trigonocephaly
MedGen UID:
82713
•Concept ID:
C0265535
•
Congenital Abnormality
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.
See: Feature record | Search on this feature
Metopic synostosis
MedGen UID:
395990
•Concept ID:
C1860819
•
Congenital Abnormality
Premature fusion of the metopic suture.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
Downslanted palpebral fissures
MedGen UID:
98391
•Concept ID:
C0423110
•
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
See: Feature record | Search on this feature
Depressed nasal bridge
MedGen UID:
373112
•Concept ID:
C1836542
•
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
See: Feature record | Search on this feature
Wide nasal bridge
MedGen UID:
341441
•Concept ID:
C1849367
•
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
See: Feature record | Search on this feature
Hypertelorism
MedGen UID:
9373
•Concept ID:
C0020534
•
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Guideline on Treatment and Management of Craniosynostosis: Patient and Family Version.
Faasse M, Mathijssen IMJ; ERN CRANIO Working Group on Craniosynostosis
J Craniofac Surg 2023 Jan-Feb 01;34(1):418-433. Epub 2022 Dec 6 doi: 10.1097/SCS.0000000000009143. PMID: 36472893Free PMC Article
Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.
Kutkowska-Kaźmierczak A, Gos M, Obersztyn E
J Appl Genet 2018 May;59(2):133-147. Epub 2018 Feb 1 doi: 10.1007/s13353-017-0423-4. PMID: 29392564
Craniosynostosis - Recognition, clinical characteristics, and treatment.
Kajdic N, Spazzapan P, Velnar T
Bosn J Basic Med Sci 2018 May 20;18(2):110-116. doi: 10.17305/bjbms.2017.2083. PMID: 28623672Free PMC Article

Recent clinical studies

Etiology

The foramen magnum in scaphocephaly.
Skadorwa T, Wierzbieniec O
Childs Nerv Syst 2022 Nov;38(11):2163-2170. Epub 2022 Aug 5 doi: 10.1007/s00381-022-05624-2. PMID: 35931858Free PMC Article
The metopic suture: Natural history.
Vinchon M
Neurochirurgie 2019 Nov;65(5):239-245. Epub 2019 Sep 25 doi: 10.1016/j.neuchi.2019.09.006. PMID: 31562880
Complex craniosynostosis.
Czerwinski M, Kolar JC, Fearon JA
Plast Reconstr Surg 2011 Oct;128(4):955-961. doi: 10.1097/PRS.0b013e3182268ca6. PMID: 21681124
Consensus: trigonocephaly.
Collmann H, Sörensen N, Krauss J
Childs Nerv Syst 1996 Nov;12(11):664-8. doi: 10.1007/BF00366148. PMID: 9118128
Craniosynostosis.
Marchac D, Renier D
World J Surg 1989 Jul-Aug;13(4):358-65. doi: 10.1007/BF01660748. PMID: 2773495

Diagnosis

Isolated Lambdoid Craniosynostosis.
Borad V, Cordes EJ, Liljeberg KM, Sylvanus TS, Lim PK, Wood RJ
J Craniofac Surg 2019 Nov-Dec;30(8):2390-2392. doi: 10.1097/SCS.0000000000006058. PMID: 31633668
Craniosynostosis - Recognition, clinical characteristics, and treatment.
Kajdic N, Spazzapan P, Velnar T
Bosn J Basic Med Sci 2018 May 20;18(2):110-116. doi: 10.17305/bjbms.2017.2083. PMID: 28623672Free PMC Article
Evidence-based medicine: Craniosynostosis.
Fearon JA
Plast Reconstr Surg 2014 May;133(5):1261-1275. doi: 10.1097/PRS.0000000000000093. PMID: 24776557
Craniofacial syndromes and surgery.
Forrest CR, Hopper RA
Plast Reconstr Surg 2013 Jan;131(1):86e-109e. doi: 10.1097/PRS.0b013e318272c12b. PMID: 23271559
Craniosynostosis.
Johnson D, Wilkie AO
Eur J Hum Genet 2011 Apr;19(4):369-76. Epub 2011 Jan 19 doi: 10.1038/ejhg.2010.235. PMID: 21248745Free PMC Article

Therapy

Importance of tranexamic acid in pediatric monosutural craniosynostosis surgery.
Eustache G, Nardi N, Rousseau C, Aouaissia S, Aillet S, Delahaye Larralde S, Wodey E, Riffaud L
J Neurosurg Pediatr 2022 Apr 1;29(4):412-418. Epub 2021 Dec 24 doi: 10.3171/2021.10.PEDS21438. PMID: 34952528
Syndromic Craniosynostosis.
Sawh-Martinez R, Steinbacher DM
Clin Plast Surg 2019 Apr;46(2):141-155. doi: 10.1016/j.cps.2018.11.009. PMID: 30851747
Nonsyndromic Craniosynostosis.
Dempsey RF, Monson LA, Maricevich RS, Truong TA, Olarunnipa S, Lam SK, Dauser RC, Hollier LH Jr, Buchanan EP
Clin Plast Surg 2019 Apr;46(2):123-139. Epub 2019 Jan 30 doi: 10.1016/j.cps.2018.11.001. PMID: 30851746
Complications in Posterior Cranial Vault Distraction.
Greives MR, Ware BW, Tian AG, Taylor JA, Pollack IF, Losee JE
Ann Plast Surg 2016 Feb;76(2):211-5. doi: 10.1097/SAP.0000000000000518. PMID: 25954848
Helmet therapy in infants with positional skull deformation: randomised controlled trial.
van Wijk RM, van Vlimmeren LA, Groothuis-Oudshoorn CG, Van der Ploeg CP, Ijzerman MJ, Boere-Boonekamp MM
BMJ 2014 May 1;348:g2741. doi: 10.1136/bmj.g2741. PMID: 24784879Free PMC Article

Prognosis

Nonsyndromic Craniosynostosis.
Dempsey RF, Monson LA, Maricevich RS, Truong TA, Olarunnipa S, Lam SK, Dauser RC, Hollier LH Jr, Buchanan EP
Clin Plast Surg 2019 Apr;46(2):123-139. Epub 2019 Jan 30 doi: 10.1016/j.cps.2018.11.001. PMID: 30851746
Helmet therapy in infants with positional skull deformation: randomised controlled trial.
van Wijk RM, van Vlimmeren LA, Groothuis-Oudshoorn CG, Van der Ploeg CP, Ijzerman MJ, Boere-Boonekamp MM
BMJ 2014 May 1;348:g2741. doi: 10.1136/bmj.g2741. PMID: 24784879Free PMC Article
Normocephalic pancraniosynostosis.
Killion EA, McEwan TW, Muzaffar AR
J Craniofac Surg 2013 Sep;24(5):1665-8. doi: 10.1097/SCS.0b013e3182997d8f. PMID: 24036748
Consensus: trigonocephaly.
Collmann H, Sörensen N, Krauss J
Childs Nerv Syst 1996 Nov;12(11):664-8. doi: 10.1007/BF00366148. PMID: 9118128
Trigonocephaly.
Zanini SA, Paglioli Neto E, Viterbo F, da Costa AR, Tershakowec M
J Craniofac Surg 1992 Sep;3(2):85-9. doi: 10.1097/00001665-199209000-00007. PMID: 1290788

Clinical prediction guides

Molecular Mechanisms Involved in Craniosynostosis.
Yapijakis C, Pachis N, Sotiriadou T, Vaila C, Michopoulou V, Vassiliou S
In Vivo 2023 Jan-Feb;37(1):36-46. doi: 10.21873/invivo.13052. PMID: 36593018Free PMC Article
Monobloc Differential Distraction Osteogenesis.
Polley JW, Figueroa AA, Girotto JA, Dietze-Fiedler ML
J Craniofac Surg 2022 Jan-Feb 01;33(1):270-275. doi: 10.1097/SCS.0000000000008111. PMID: 34967523
Nonsyndromic Craniosynostosis.
Dempsey RF, Monson LA, Maricevich RS, Truong TA, Olarunnipa S, Lam SK, Dauser RC, Hollier LH Jr, Buchanan EP
Clin Plast Surg 2019 Apr;46(2):123-139. Epub 2019 Jan 30 doi: 10.1016/j.cps.2018.11.001. PMID: 30851746
Helmet therapy in infants with positional skull deformation: randomised controlled trial.
van Wijk RM, van Vlimmeren LA, Groothuis-Oudshoorn CG, Van der Ploeg CP, Ijzerman MJ, Boere-Boonekamp MM
BMJ 2014 May 1;348:g2741. doi: 10.1136/bmj.g2741. PMID: 24784879Free PMC Article
Consensus: trigonocephaly.
Collmann H, Sörensen N, Krauss J
Childs Nerv Syst 1996 Nov;12(11):664-8. doi: 10.1007/BF00366148. PMID: 9118128

Recent systematic reviews

Global Epidemiology of Craniosynostosis: A Systematic Review and Meta-Analysis.
Shlobin NA, Baticulon RE, Ortega CA, Du L, Bonfield CM, Wray A, Forrest CR, Dewan MC
World Neurosurg 2022 Aug;164:413-423.e3. Epub 2022 May 27 doi: 10.1016/j.wneu.2022.05.093. PMID: 35636659
Craniofacial morphology in Apert syndrome: a systematic review and meta-analysis.
Alam MK, Alfawzan AA, Srivastava KC, Shrivastava D, Ganji KK, Manay SM
Sci Rep 2022 Apr 5;12(1):5708. doi: 10.1038/s41598-022-09764-y. PMID: 35383244Free PMC Article
Sutures ultrasound: useful diagnostic screening for posterior plagiocephaly.
Marino S, Ruggieri M, Marino L, Falsaperla R
Childs Nerv Syst 2021 Dec;37(12):3715-3720. Epub 2021 Aug 28 doi: 10.1007/s00381-021-05324-3. PMID: 34453581Free PMC Article
Nervous system involvement in Pfeiffer syndrome.
Mavridis IN, Rodrigues D
Childs Nerv Syst 2021 Feb;37(2):367-374. Epub 2020 Oct 20 doi: 10.1007/s00381-020-04934-7. PMID: 33083874
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis.
Rozas MF, Benavides F, León L, Repetto GM
Orphanet J Rare Dis 2019 Aug 9;14(1):195. doi: 10.1186/s13023-019-1170-x. PMID: 31399107Free PMC Article

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