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Sparse and thin eyebrow

MedGen UID:
924309
•Concept ID:
C4282407
•
Finding
Synonym: Thin, sparse eyebrows

Professional guidelines

PubMed

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC
Eur J Med Genet 2015 May;58(5):279-92. Epub 2015 Mar 16 doi: 10.1016/j.ejmg.2015.03.002. PMID: 25792522
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A
Clin Genet 2013 Dec;84(6):539-45. Epub 2013 Apr 26 doi: 10.1111/cge.12081. PMID: 23320472

Recent clinical studies

Etiology

Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region.
Tuğ E, Ergün MA, Perçin EF
Turk J Pediatr 2018;60(1):94-98. doi: 10.24953/turkjped.2018.01.015. PMID: 30102487
1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.
Tim-Aroon T, Jinawath N, Thammachote W, Sinpitak P, Limrungsikul A, Khongkhatithum C, Wattanasirichaigoon D
Am J Med Genet A 2017 Mar;173(3):766-770. doi: 10.1002/ajmg.a.38082. PMID: 28211977
The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings.
Dentici ML, Mingarelli R, Dallapiccola B
Am J Med Genet A 2011 Mar;155A(3):459-65. Epub 2011 Feb 22 doi: 10.1002/ajmg.a.33642. PMID: 21567902
Practical guidelines for evaluation of loose anagen hair syndrome.
Cantatore-Francis JL, Orlow SJ
Arch Dermatol 2009 Oct;145(10):1123-8. doi: 10.1001/archdermatol.2009.220. PMID: 19841399
Incontinentia pigmenti (IP2): familiar case report with affected men. Literature review.
Arenas-Sordo Mde L, Vallejo-Vega B, Hernández-Zamora E, Gálvez-Rosas A, Montoya-Pérez LA
Med Oral Patol Oral Cir Bucal 2005 Jul 1;10 Suppl 2:E122-9. PMID: 15995571

Diagnosis

1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.
Tim-Aroon T, Jinawath N, Thammachote W, Sinpitak P, Limrungsikul A, Khongkhatithum C, Wattanasirichaigoon D
Am J Med Genet A 2017 Mar;173(3):766-770. doi: 10.1002/ajmg.a.38082. PMID: 28211977
Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.
De Maria B, Mazzanti L, Roche N, Hennekam RC
Am J Med Genet A 2016 Aug;170(8):1989-2001. Epub 2016 May 19 doi: 10.1002/ajmg.a.37757. PMID: 27196381
Ocular Findings in Children With 22q11.2 Deletion Syndrome.
Gokturk B, Topcu-Yilmaz P, Bozkurt B, Yildirim MS, Guner SN, Sayar EH, Reisli I
J Pediatr Ophthalmol Strabismus 2016 Jul 1;53(4):218-22. Epub 2016 May 17 doi: 10.3928/01913913-20160427-01. PMID: 27182748
Late-onset Rothmund-Thomson syndrome.
Kumar P, Sharma PK, Gautam RK, Jain RK, Kar HK
Int J Dermatol 2007 May;46(5):492-3. doi: 10.1111/j.1365-4632.2007.03248.x. PMID: 17472679
Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes.
Hilton MJ, Sawyer JM, Gutiérrez L, Hogart A, Kung TC, Wells DE
J Hum Genet 2002;47(3):103-6. doi: 10.1007/s100380200010. PMID: 11950061

Therapy

Tricho-rhino-phalangeal syndrome type 1 as an outcome of in vitro fertilization?
Karaer K, Yüksel Z
Genet Couns 2014;25(1):13-7. PMID: 24783650

Prognosis

A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Mendelsohn BA, Beleford DT, Abu-El-Haija A, Alsaleh NS, Rahbeeni Z, Martin PM, Rego S, Huang A, Capodanno G, Shieh JT, Van Ziffle J, Risch N, Alkuraya FS, Slavotinek AM
Am J Med Genet A 2020 Mar;182(3):513-520. Epub 2019 Dec 27 doi: 10.1002/ajmg.a.61450. PMID: 31880405Free PMC Article
Restrictive dermopathy in a Turkish newborn.
Yesil G, Hatipoglu L, Esteves-Vieira V, Levy N, De Sandre-Giovannoli A, Tüysüz B
Pediatr Dermatol 2011 Jul-Aug;28(4):408-11. Epub 2010 Dec 2 doi: 10.1111/j.1525-1470.2010.01296.x. PMID: 21121943
Practical guidelines for evaluation of loose anagen hair syndrome.
Cantatore-Francis JL, Orlow SJ
Arch Dermatol 2009 Oct;145(10):1123-8. doi: 10.1001/archdermatol.2009.220. PMID: 19841399
Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: report of a third family and review.
Tatar A, Ocak Z, Tatar A, Yesilyurt A, Borekci B, Oztas S
Am J Med Genet A 2009 Mar;149A(3):501-4. doi: 10.1002/ajmg.a.32645. PMID: 19213036
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Geneviève D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Lévy N
Hum Mol Genet 2004 Oct 15;13(20):2493-503. Epub 2004 Aug 18 doi: 10.1093/hmg/ddh265. PMID: 15317753

Clinical prediction guides

A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Mendelsohn BA, Beleford DT, Abu-El-Haija A, Alsaleh NS, Rahbeeni Z, Martin PM, Rego S, Huang A, Capodanno G, Shieh JT, Van Ziffle J, Risch N, Alkuraya FS, Slavotinek AM
Am J Med Genet A 2020 Mar;182(3):513-520. Epub 2019 Dec 27 doi: 10.1002/ajmg.a.61450. PMID: 31880405Free PMC Article
A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report.
Smaili W, Elalaoui SC, Meier S, Zerkaoui M, Sefiani A, Heinimann K
BMC Med Genet 2017 May 3;18(1):50. doi: 10.1186/s12881-017-0413-8. PMID: 28468609Free PMC Article
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A
Clin Genet 2013 Dec;84(6):539-45. Epub 2013 Apr 26 doi: 10.1111/cge.12081. PMID: 23320472
A novel locus for ectodermal dysplasia of hairs, nails and teeth type maps to chromosome 18q22.1-22.3.
Tariq M, Chishti MS, Ali G, Ahmad W
Ann Hum Genet 2008 Jan;72(Pt 1):19-25. doi: 10.1111/j.1469-1809.2007.00391.x. PMID: 18184143
Late-onset Rothmund-Thomson syndrome.
Kumar P, Sharma PK, Gautam RK, Jain RK, Kar HK
Int J Dermatol 2007 May;46(5):492-3. doi: 10.1111/j.1365-4632.2007.03248.x. PMID: 17472679

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