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Malar prominence

MedGen UID:
346975
Concept ID:
C1858732
Finding
Synonyms: malar hyperplasia; malar hypertrophy; malar prominence
 
HPO: HP:0010620

Definition

Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face. [from HPO]

Conditions with this feature

Microcephaly, normal intelligence and immunodeficiency
MedGen UID:
140771
Concept ID:
C0398791
Disease or Syndrome
Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, early growth deficiency that improves with age, recurrent respiratory infections, an increased risk for malignancy (primarily lymphoma), and premature ovarian failure in females. Developmental milestones are attained at the usual time during the first year; however, borderline delays in development and hyperactivity may be observed in early childhood. Intellectual abilities tend to decline over time. Recurrent pneumonia and bronchitis may result in respiratory failure and early death. Other reported malignancies include solid tumors (e.g., medulloblastoma, glioma, rhabdomyosarcoma).
Congenital cataracts-facial dysmorphism-neuropathy syndrome
MedGen UID:
346973
Concept ID:
C1858726
Congenital Abnormality
CTDP1-related congenital cataracts, facial dysmorphism, and neuropathy (CTDP1-CCFDN) is characterized by abnormalities of the eye (bilateral congenital cataracts, microcornea, microphthalmia, micropupils), mildly dysmorphic facial features apparent in late childhood, and a hypo-/demyelinating, symmetric, distal peripheral neuropathy. The neuropathy is predominantly motor at the onset and results in delays in early motor development, progressing to severe disability by the third decade of life. Secondary foot deformities and scoliosis are common. Sensory neuropathy develops after age ten years. Most affected individuals have a mild nonprogressive intellectual deficit and cerebellar involvement including ataxia, nystagmus, intention tremor, and dysmetria. All have short stature and most have subnormal weight. Adults have hypogonadotropic hypogonadism. Parainfectious rhabdomyolysis (profound muscle weakness, myoglobinuria, and excessively elevated serum concentration of creatine kinase usually following a viral infection) is a potentially life-threatening complication. To date all affected individuals and carriers identified have been from the Romani population.

Professional guidelines

PubMed

Fan L, Ren X, Song Y, Su C, Fu J, Gong C
Orphanet J Rare Dis 2019 Dec 30;14(1):299. doi: 10.1186/s13023-019-1283-2. PMID: 31888681Free PMC Article
Walling HW, Sontheimer RD
Am J Clin Dermatol 2009;10(6):365-81. doi: 10.2165/11310780-000000000-00000. PMID: 19824738
Makundi EA, Malebo HM, Mhame P, Kitua AY, Warsame M
Malar J 2006 Jul 18;5:58. doi: 10.1186/1475-2875-5-58. PMID: 16848889Free PMC Article

Recent clinical studies

Etiology

Gerbino G, Autorino U, Borbon C, Marcolin F, Olivetti E, Vezzetti E, Zavattero E
J Craniomaxillofac Surg 2021 Mar;49(3):223-230. Epub 2021 Jan 19 doi: 10.1016/j.jcms.2021.01.008. PMID: 33509673
Gao B, Yuan Y, Li K, Li Z, Yu L
J Craniofac Surg 2021 Jan-Feb 01;32(1):179-183. doi: 10.1097/SCS.0000000000007043. PMID: 33196618
Oettlé AC, Demeter FP, L'abbé EN
Anat Rec (Hoboken) 2017 Jan;300(1):196-208. doi: 10.1002/ar.23469. PMID: 28000408
Zou C, Wang JQ, Liu JF, Niu F, Chen Y, Wang M, Gui L
Ann Plast Surg 2016 Aug;77(2):141-4. doi: 10.1097/SAP.0000000000000586. PMID: 26207549
Patrocínio LG, Patrocínio JA, Couto HG, Muniz de Souza H, Carvalho PM
Braz J Otorhinolaryngol 2006 Sep-Oct;72(5):592-7. doi: 10.1016/s1808-8694(15)31014-4. PMID: 17221050Free PMC Article

Diagnosis

Vaidya S, Parkash H, Gupta S, Bhargava A, Kapoor C
J Prosthodont 2016 Jan;25(1):71-6. Epub 2015 May 21 doi: 10.1111/jopr.12290. PMID: 25997077
Tan W, Niu F, Yu B, Gui L
J Craniofac Surg 2011 Mar;22(2):546-50. doi: 10.1097/SCS.0b013e318208bb41. PMID: 21403525
Tan SR, Tope WD
J Am Acad Dermatol 2004 Oct;51(4):592-9. doi: 10.1016/j.jaad.2004.04.010. PMID: 15389196

Therapy

Priya S, Graham M
Clin Nucl Med 2020 Mar;45(3):217-219. doi: 10.1097/RLU.0000000000002846. PMID: 31876808
Patrocínio LG, Patrocínio JA, Couto HG, Muniz de Souza H, Carvalho PM
Braz J Otorhinolaryngol 2006 Sep-Oct;72(5):592-7. doi: 10.1016/s1808-8694(15)31014-4. PMID: 17221050Free PMC Article
O'Hara KL, Urrego AF, Garri JI, O'Hara CM, Bradley JP, Kawamoto HK
Plast Reconstr Surg 2006 May;117(6):1956-63. doi: 10.1097/01.prs.0000218867.26061.21. PMID: 16651970
Tan SR, Tope WD
J Am Acad Dermatol 2004 Oct;51(4):592-9. doi: 10.1016/j.jaad.2004.04.010. PMID: 15389196
Mladick RA
Clin Plast Surg 1991 Jan;18(1):29-38. PMID: 2015748

Prognosis

Diaz-Siso JR, Gibson TL, Plana NM, Yue OY, Flores RL
J Craniofac Surg 2020 Jan/Feb;31(1):178-182. doi: 10.1097/SCS.0000000000005694. PMID: 31246629
Wu CM, Chen YA, Liao HT, Chen CH, Pan CH, Chen CT
Asian J Surg 2018 Jul;41(4):370-376. Epub 2017 May 10 doi: 10.1016/j.asjsur.2017.03.003. PMID: 28501387
Li Q, Gao B, Li K, Xie F, Zhu H, Yu LG
J Oral Maxillofac Surg 2017 Dec;75(12):2658-2666. Epub 2017 Jun 24 doi: 10.1016/j.joms.2017.06.022. PMID: 28710911
Zou C, Wang JQ, Liu JF, Niu F, Chen Y, Wang M, Gui L
Ann Plast Surg 2016 Aug;77(2):141-4. doi: 10.1097/SAP.0000000000000586. PMID: 26207549
Zou C, Niu F, Yu B, Liu JF, Gui L
J Oral Maxillofac Surg 2015 Nov;73(11):2196-206. Epub 2015 Apr 22 doi: 10.1016/j.joms.2015.03.064. PMID: 25959875

Clinical prediction guides

Lee YJ, Lee CL, Lee IS, Yang HJ
J Craniofac Surg 2021 Nov-Dec 01;32(8):2840-2844. doi: 10.1097/SCS.0000000000007737. PMID: 34172678
Gerbino G, Autorino U, Borbon C, Marcolin F, Olivetti E, Vezzetti E, Zavattero E
J Craniomaxillofac Surg 2021 Mar;49(3):223-230. Epub 2021 Jan 19 doi: 10.1016/j.jcms.2021.01.008. PMID: 33509673
Wu CM, Chen YA, Liao HT, Chen CH, Pan CH, Chen CT
Asian J Surg 2018 Jul;41(4):370-376. Epub 2017 May 10 doi: 10.1016/j.asjsur.2017.03.003. PMID: 28501387
Zou C, Wang JQ, Liu JF, Niu F, Chen Y, Wang M, Gui L
Ann Plast Surg 2016 Aug;77(2):141-4. doi: 10.1097/SAP.0000000000000586. PMID: 26207549
Rohrich RJ, Ghavami A, Constantine FC, Unger J, Mojallal A
Plast Reconstr Surg 2014 Jun;133(6):756e-767e. doi: 10.1097/01.prs.0000436817.96214.7e. PMID: 24569422

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