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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: [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

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
Cleft and Craniofacial Surgery.
Steinberg B, Caccamese J Jr, Costello BJ, Woerner J
J Oral Maxillofac Surg 2017 Aug;75(8S):e126-e150. doi: 10.1016/j.joms.2017.04.031. PMID: 28728728
Ethnic considerations of the crooked nose.
Cobo R
Facial Plast Surg 2011 Oct;27(5):467-82. Epub 2011 Oct 25 doi: 10.1055/s-0031-1288926. PMID: 22028011
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
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
Cleft and Craniofacial Surgery.
Steinberg B, Caccamese J Jr, Costello BJ, Woerner J
J Oral Maxillofac Surg 2017 Aug;75(8S):e126-e150. doi: 10.1016/j.joms.2017.04.031. PMID: 28728728
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
Nasal encephaloceles.
Hoving EW
Childs Nerv Syst 2000 Nov;16(10-11):702-6. doi: 10.1007/s003810000339. PMID: 11151720

Therapy

Extreme preterm neonate with fetal warfarin syndrome.
Birbal R, Olaniyi O, Clarke P
Arch Dis Child Fetal Neonatal Ed 2023 May;108(3):293-294. Epub 2021 Dec 23 doi: 10.1136/archdischild-2021-323295. PMID: 34949636
Cleft and Craniofacial Surgery.
Steinberg B, Caccamese J Jr, Costello BJ, Woerner J
J Oral Maxillofac Surg 2017 Aug;75(8S):e126-e150. doi: 10.1016/j.joms.2017.04.031. PMID: 28728728
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
Correction of warfarin-induced nasal hypoplasia.
Bradley JP, Kawamoto HK, Taub P
Plast Reconstr Surg 2003 Apr 15;111(5):1680-7. doi: 10.1097/01.PRS.0000055456.57171.48. PMID: 12655214

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
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
Correction of warfarin-induced nasal hypoplasia.
Bradley JP, Kawamoto HK, Taub P
Plast Reconstr Surg 2003 Apr 15;111(5):1680-7. doi: 10.1097/01.PRS.0000055456.57171.48. PMID: 12655214
Nasal encephaloceles.
Hoving EW
Childs Nerv Syst 2000 Nov;16(10-11):702-6. doi: 10.1007/s003810000339. PMID: 11151720

Clinical prediction guides

Absent or hypoplastic nasal bone: What to tell the prospective parents?
Das S, Sharma C, Yadav T, Dubey K, Shekhar S, Singh P, Singh K, Gothwal M, Jhirwal M, Shekhawat DS
Birth Defects Res 2024 May;116(5):e2348. doi: 10.1002/bdr2.2348. PMID: 38801241
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
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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