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Syndrome with synostosis or other joint formation defect

MedGen UID:
1842759
•Concept ID:
C5681596
•
Disease or Syndrome
Orphanet: ORPHA93459

Professional guidelines

PubMed

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tümer Z, Platzer K
Eur J Hum Genet 2023 Nov;31(11):1251-1260. Epub 2023 Aug 30 doi: 10.1038/s41431-023-01445-2. PMID: 37644171Free PMC Article
The clinical manifestations, molecular mechanisms and treatment of craniosynostosis.
Stanton E, Urata M, Chen JF, Chai Y
Dis Model Mech 2022 Apr 1;15(4) Epub 2022 Apr 22 doi: 10.1242/dmm.049390. PMID: 35451466Free PMC Article
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

Syndromic Hydrocephalus.
Varagur K, Sanka SA, Strahle JM
Neurosurg Clin N Am 2022 Jan;33(1):67-79. doi: 10.1016/j.nec.2021.09.006. PMID: 34801143Free PMC Article
Distraction osteogenesis in craniosynostosis.
Sandhaus H, Johnson MD
Curr Opin Otolaryngol Head Neck Surg 2021 Aug 1;29(4):304-313. doi: 10.1097/MOO.0000000000000724. PMID: 34183561
Craniosynostosis: Neonatal Perspectives.
Bautista G
Neoreviews 2021 Apr;22(4):e250-e257. doi: 10.1542/neo.22-4-e250. PMID: 33795400
Craniosynostosis.
Governale LS
Pediatr Neurol 2015 Nov;53(5):394-401. Epub 2015 Jul 22 doi: 10.1016/j.pediatrneurol.2015.07.006. PMID: 26371995
The Ehlers-Danlos syndrome.
Malfait F, De Paepe A
Adv Exp Med Biol 2014;802:129-43. doi: 10.1007/978-94-007-7893-1_9. PMID: 24443025

Diagnosis

Syndromic Craniosynostosis.
Wang JC, Nagy L, Demke JC
Facial Plast Surg Clin North Am 2016 Nov;24(4):531-543. doi: 10.1016/j.fsc.2016.06.008. PMID: 27712819
Craniosynostosis.
Governale LS
Pediatr Neurol 2015 Nov;53(5):394-401. Epub 2015 Jul 22 doi: 10.1016/j.pediatrneurol.2015.07.006. PMID: 26371995
Craniofacial anomalies.
Nagy L, Demke JC
Facial Plast Surg Clin North Am 2014 Nov;22(4):523-48. Epub 2014 Nov 8 doi: 10.1016/j.fsc.2014.08.002. PMID: 25444726
Craniofacial syndromes.
Buchanan EP, Xue AS, Hollier LH Jr
Plast Reconstr Surg 2014 Jul;134(1):128e-153e. doi: 10.1097/PRS.0000000000000308. PMID: 25028828
Evidence-based medicine: Craniosynostosis.
Fearon JA
Plast Reconstr Surg 2014 May;133(5):1261-1275. doi: 10.1097/PRS.0000000000000093. PMID: 24776557

Therapy

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
Anaesthesia of brachycephalic dogs.
Downing F, Gibson S
J Small Anim Pract 2018 Dec;59(12):725-733. Epub 2018 Oct 29 doi: 10.1111/jsap.12948. PMID: 30374971
Repair and tissue engineering techniques for articular cartilage.
Makris EA, Gomoll AH, Malizos KN, Hu JC, Athanasiou KA
Nat Rev Rheumatol 2015 Jan;11(1):21-34. Epub 2014 Sep 23 doi: 10.1038/nrrheum.2014.157. PMID: 25247412Free PMC Article
A novel therapeutic strategy for Ehlers-Danlos syndrome based on nutritional supplements.
Mantle D, Wilkins RM, Preedy V
Med Hypotheses 2005;64(2):279-83. doi: 10.1016/j.mehy.2004.07.023. PMID: 15607555

Prognosis

Squamosal Suture Synostosis: An Under-Recognized Phenomenon.
W Beiriger J, Zhu X, Bruce MK, Irgebay Z, Smetona J, Losee JE, Goldstein JA
Cleft Palate Craniofac J 2023 Oct;60(10):1267-1272. Epub 2022 May 20 doi: 10.1177/10556656221100675. PMID: 35593077
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
Lacrimo-auriculo-dento-digital syndrome.
Mathrawala NR, Hegde RJ
J Indian Soc Pedod Prev Dent 2011 Apr-Jun;29(2):168-70. doi: 10.4103/0970-4388.84693. PMID: 21911959
Frontoorbital reconstruction.
Buchman SR, Muraszko K
Atlas Oral Maxillofac Surg Clin North Am 2002 Mar;10(1):43-56. doi: 10.1016/s1061-3315(01)00002-6. PMID: 12087865
Management of craniosynostoses.
Renier D, Lajeunie E, Arnaud E, Marchac D
Childs Nerv Syst 2000 Nov;16(10-11):645-58. doi: 10.1007/s003810000320. PMID: 11151714

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
Recent advances in trigonocephaly.
Mocquard C, Aillet S, Riffaud L
Neurochirurgie 2019 Nov;65(5):246-251. Epub 2019 Sep 27 doi: 10.1016/j.neuchi.2019.09.014. PMID: 31568780
Craniosynostosis and ENT.
Couloigner V, Ayari Khalfallah S
Neurochirurgie 2019 Nov;65(5):318-321. Epub 2019 Sep 27 doi: 10.1016/j.neuchi.2019.09.015. PMID: 31568777
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
Frontoorbital reconstruction.
Buchman SR, Muraszko K
Atlas Oral Maxillofac Surg Clin North Am 2002 Mar;10(1):43-56. doi: 10.1016/s1061-3315(01)00002-6. PMID: 12087865

Recent systematic reviews

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
Association between maternal thyroid function and risk of gestational hypertension and pre-eclampsia: a systematic review and individual-participant data meta-analysis.
Toloza FJK, Derakhshan A, Männistö T, Bliddal S, Popova PV, Carty DM, Chen L, Taylor P, Mosso L, Oken E, Suvanto E, Itoh S, Kishi R, Bassols J, Auvinen J, López-Bermejo A, Brown SJ, Boucai L, Hisada A, Yoshinaga J, Shilova E, Grineva EN, Vrijkotte TGM, Sunyer J, Jiménez-Zabala A, Riaño-Galan I, Lopez-Espinosa MJ, Prokop LJ, Singh Ospina N, Brito JP, Rodriguez-Gutierrez R, Alexander EK, Chaker L, Pearce EN, Peeters RP, Feldt-Rasmussen U, Guxens M, Chatzi L, Delles C, Roeters van Lennep JE, Pop VJM, Lu X, Walsh JP, Nelson SM, Korevaar TIM, Maraka S
Lancet Diabetes Endocrinol 2022 Apr;10(4):243-252. Epub 2022 Mar 4 doi: 10.1016/S2213-8587(22)00007-9. PMID: 35255260Free PMC Article
Tarsal coalition: Systematic review of arthroscopic management.
Addar A, Marwan Y, Algarni N, Algarni N, Berry GK, Benaroch T
Foot (Edinb) 2021 Dec;49:101864. Epub 2021 Sep 22 doi: 10.1016/j.foot.2021.101864. PMID: 34597922
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
Dental approach for Apert syndrome in children: a systematic review.
López-Estudillo AS, Rosales-Bérber MA, Ruiz-Rodríguez S, Pozos-Guillén A, Noyola-Frías MÁ, Garrocho-Rangel A
Med Oral Patol Oral Cir Bucal 2017 Nov 1;22(6):e660-e668. doi: 10.4317/medoral.21628. PMID: 29053644Free PMC Article

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