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Hypoplasia of the nasal bone

MedGen UID:
867289
•Concept ID:
C4021651
•
Finding
Synonym: Hypoplasia of nasal bones
 
HPO: HP:0004646

Definition

Underdevelopment of the nasal bone. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoplasia of the nasal bone

Conditions with this feature

Autosomal dominant chondrodysplasia punctata
MedGen UID:
303176
•Concept ID:
C1442935
•
Disease or Syndrome
Autosomal dominant form of chondrodysplasia punctata.
See: Condition Record
Usher syndrome type 1G
MedGen UID:
339683
•Concept ID:
C1847089
•
Disease or Syndrome
Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP). Unless fitted with a cochlear implant, individuals do not typically develop speech. RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.
See: Condition Record
Autosomal dominant chondrodysplasia punctata
Usher syndrome type 1G

Professional guidelines

PubMed

ALX-Related Frontonasal Dysplasias: Clinical Characteristics and Surgical Management.
Vargel I, Canter HI, Kucukguven A, Aydin A, Ozgur F
Cleft Palate Craniofac J 2022 May;59(5):637-643. Epub 2021 Jun 8 doi: 10.1177/10556656211019621. PMID: 34098755
Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
Management of the alveolar cleft.
Santiago PE, Schuster LA, Levy-Bercowski D
Clin Plast Surg 2014 Apr;41(2):219-32. doi: 10.1016/j.cps.2014.01.001. PMID: 24607190

Recent clinical studies

Etiology

Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
Cerebro-oculo-facio-skeletal syndrome.
Suzumura H, Arisaka O
Adv Exp Med Biol 2010;685:210-4. doi: 10.1007/978-1-4419-6448-9_19. PMID: 20687508
Maxillary sinus aplasia.
Chrcanovic BR, Freire-Maia B
Oral Maxillofac Surg 2010 Sep;14(3):187-91. doi: 10.1007/s10006-009-0200-6. PMID: 20091417
The Arrhinias.
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938
Genioplasty.
Spear SL, Kassan M
Clin Plast Surg 1989 Oct;16(4):695-706. PMID: 2680217

Diagnosis

Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
Absent nasal bone.
Society for Maternal-Fetal Medicine, Benacerraf BR, Bromley B, Jelin AC
Am J Obstet Gynecol 2019 Nov;221(5):B6-B7. doi: 10.1016/j.ajog.2019.08.049. PMID: 31679594
Binder syndrome.
Chummun S, McLean NR, Nugent M, Anderson PJ, David DJ
J Craniofac Surg 2012 Jul;23(4):986-90. doi: 10.1097/SCS.0b013e31824e2683. PMID: 22777437
Developmental maxillofacial anomalies.
Baxter DJ, Shroff MM
Semin Ultrasound CT MR 2011 Dec;32(6):555-68. doi: 10.1053/j.sult.2011.06.004. PMID: 22108218
The Arrhinias.
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938

Therapy

Fetal warfarin syndrome.
Starling LD, Sinha A, Boyd D, Furck A
BMJ Case Rep 2012 Nov 1;2012 doi: 10.1136/bcr-2012-007344. PMID: 23125300Free PMC Article
Asymmetric nasal tip.
Stephan S, Wang TD
Facial Plast Surg 2012 Apr;28(2):177-86. Epub 2012 May 6 doi: 10.1055/s-0032-1309297. PMID: 22562567
Hematological and toxicological evaluation of formaldehyde as a potential cause of human leukemia.
Goldstein BD
Hum Exp Toxicol 2011 Jul;30(7):725-35. Epub 2010 Aug 20 doi: 10.1177/0960327110381682. PMID: 20729258
Nasolabial aesthetics.
Mitchell C, Oeltjen J, Panthaki Z, Thaller SR
J Craniofac Surg 2007 Jul;18(4):756-65. doi: 10.1097/scs.0b013e3180684360. PMID: 17667661
Pseudo-(tumor-induced) rickets.
Whyte MP, Podgornik MN, Wollberg VA, Eddy MC, McAlister WH
J Bone Miner Res 2001 Aug;16(8):1564-71. doi: 10.1359/jbmr.2001.16.8.1564. PMID: 11499880

Prognosis

Absent nasal bone.
Society for Maternal-Fetal Medicine, Benacerraf BR, Bromley B, Jelin AC
Am J Obstet Gynecol 2019 Nov;221(5):B6-B7. doi: 10.1016/j.ajog.2019.08.049. PMID: 31679594
Pyriform aperture enlargement in all aspects.
Esen E, Bayar Muluk N, Altintoprak N, Ipci K, Cingi C
J Laryngol Otol 2017 Jun;131(6):476-479. Epub 2017 Feb 27 doi: 10.1017/S0022215117000391. PMID: 28238296
Raine syndrome: an overview.
Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B
Eur J Med Genet 2014 Sep;57(9):536-42. Epub 2014 Jul 12 doi: 10.1016/j.ejmg.2014.07.001. PMID: 25019372
The Arrhinias.
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938
Nasal encephaloceles.
Hoving EW
Childs Nerv Syst 2000 Nov;16(10-11):702-6. doi: 10.1007/s003810000339. PMID: 11151720

Clinical prediction guides

Craniofacial Features of Dwarfism in the Paintings of Velázquez.
Hwang SW, Hwang K, Tukeshov SK
J Craniofac Surg 2023 Sep 1;34(6):1804-1806. Epub 2023 May 22 doi: 10.1097/SCS.0000000000009368. PMID: 37220719
Effects of the COVID-19 Pandemic on Pediatric Nasal Fractures.
Firat Koca C, Celik T, Aydin S, Kelles M, Yasar S
Ear Nose Throat J 2022 May;101(4):239-244. Epub 2021 Nov 23 doi: 10.1177/01455613211051309. PMID: 34814775Free PMC Article
Revisiting absent nasal bone in the second trimester.
Singh C, Thakur S, Arora N, Khurana D
J Clin Ultrasound 2021 Jan;49(1):3-7. Epub 2020 Jun 10 doi: 10.1002/jcu.22877. PMID: 32521052
Book: Genetics for obstetricians and gynaecologists: Chapter: Genetic markers on ultrasound scan.
Sivanathan J, Thilaganathan B
Best Pract Res Clin Obstet Gynaecol 2017 Jul;42:64-85. Epub 2017 Mar 21 doi: 10.1016/j.bpobgyn.2017.03.005. PMID: 28456373
A re-evaluation of the premaxillary bone in humans.
Barteczko K, Jacob M
Anat Embryol (Berl) 2004 Mar;207(6):417-37. Epub 2004 Feb 4 doi: 10.1007/s00429-003-0366-x. PMID: 14760532

Recent systematic reviews

Chromosomal Microarray Analysis in Fetuses With Ultrasonographic Soft Markers: A Meta-Analysis of the Current Evidence.
Kim U, Jung YM, Oh S, Bae JH, Lee J, Park CW, Park JS, Jun JK, Lee SM
J Korean Med Sci 2024 Mar 4;39(8):e70. doi: 10.3346/jkms.2024.39.e70. PMID: 38442716Free PMC Article
Anatomical variations and abnormalities of the maxillary region and clinical implications: A systematic review and metaanalysis.
Valenzuela-Fuenzalida JJ, Baez-Flores B, Sepúlveda RÁ, Medina CM, Pérez R, López E, Sanchis J, Orellana Donoso M, Silva JL, Rodriguez MC, Iwanaga J
Medicine (Baltimore) 2023 Sep 22;102(38):e34510. doi: 10.1097/MD.0000000000034510. PMID: 37747000Free PMC Article
Pyriform Aperture Enlargement for Internal Nasal Valve Obstruction in Adults: Systematic Review and Surgical Classification.
Hajem H, Botter C, Al Omani M, Sounthakith V, de Bressieux E, Benkhatar H
Otolaryngol Head Neck Surg 2021 Nov;165(5):745-750. Epub 2021 Mar 2 doi: 10.1177/0194599821994739. PMID: 33648407
Systematic review and meta-analysis of performance of second-trimester nasal bone assessment in detection of fetuses with Down syndrome.
Moreno-Cid M, Rubio-Lorente A, Rodríguez MJ, Bueno-Pacheco G, Tenías JM, Román-Ortiz C, Arias Á
Ultrasound Obstet Gynecol 2014 Mar;43(3):247-53. doi: 10.1002/uog.13228. PMID: 24151178
Management of the nasal dorsum in rhinoplasty: a systematic review of the literature regarding technique, outcomes, and complications.
Lee MR, Unger JG, Rohrich RJ
Plast Reconstr Surg 2011 Nov;128(5):538e-550e. doi: 10.1097/PRS.0b013e31822b6a82. PMID: 22030516

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