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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

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: [email protected], 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
Prenatal diagnosis in the first trimester of pregnancy.
Ndumbe FM, Navti O, Chilaka VN, Konje JC
Obstet Gynecol Surv 2008 May;63(5):317-28. doi: 10.1097/OGX.0b013e31816ff1cd. PMID: 18419831

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: [email protected], 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
Bony Fixation of the Nasal Framework.
Haack S, Hacker S, Mann S, Gubisch W
Facial Plast Surg 2019 Feb;35(1):23-30. Epub 2019 Feb 13 doi: 10.1055/s-0039-1677767. PMID: 30759458
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
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: [email protected], 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
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
Nasal encephaloceles.
Hoving EW
Childs Nerv Syst 2000 Nov;16(10-11):702-6. doi: 10.1007/s003810000339. PMID: 11151720

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
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
Augmentation rhinoplasty.
Kinnebrew M
Atlas Oral Maxillofac Surg Clin North Am 1995 Sep;3(2):39-56. PMID: 11873699

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
Bony Fixation of the Nasal Framework.
Haack S, Hacker S, Mann S, Gubisch W
Facial Plast Surg 2019 Feb;35(1):23-30. Epub 2019 Feb 13 doi: 10.1055/s-0039-1677767. PMID: 30759458
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
Clinical and molecular spectrum of CHOPS syndrome.
Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano-Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K
Am J Med Genet A 2019 Jul;179(7):1126-1138. Epub 2019 May 6 doi: 10.1002/ajmg.a.61174. PMID: 31058441Free PMC Article
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
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
Interventions for preventing bone disease in kidney transplant recipients.
Palmer S, McGregor DO, Strippoli GF
Cochrane Database Syst Rev 2005 Apr 18;(2):CD005015. doi: 10.1002/14651858.CD005015.pub2. PMID: 15846740

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