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Hypoplastic nasal bone

MedGen UID:
1814212
Concept ID:
C5676634
Congenital Abnormality
HPO: HP:0025707

Definition

Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques. [from HPO]

Term Hierarchy

Conditions with this feature

Marshall syndrome
MedGen UID:
82694
Concept ID:
C0265235
Disease or Syndrome
Marshall syndrome (MRSHS) is characterized by midfacial hypoplasia, cleft palate, ocular anomalies including high myopia and cataracts, sensorineural hearing loss, short stature with spondyloepiphyseal dysplasia, and arthropathy. In contrast to Stickler syndrome type II, it has less severe eye findings but striking ocular hypertelorism, more pronounced maxillary hypoplasia, and ectodermal abnormalities (summary by Shanske et al., 1997 and Ala-Kokko and Shanske, 2009).

Recent clinical studies

Etiology

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
Simonini C, Hoopmann M, Kagan KO, Schröder T, Gembruch U, Geipel A
BMC Pregnancy Childbirth 2022 Apr 15;22(1):327. doi: 10.1186/s12884-022-04665-4. PMID: 35428251Free PMC Article
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
Burn SC, Markese A, Bangdiwala A, Gill L, Jacobs K
J Ultrasound Med 2020 May;39(5):1007-1012. Epub 2019 Dec 2 doi: 10.1002/jum.15186. PMID: 31791112
Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH
Ultrasound Obstet Gynecol 2013 Mar;41(3):247-61. Epub 2013 Jan 24 doi: 10.1002/uog.12364. PMID: 23208748

Diagnosis

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
Chen X, Jiang Y, Zeng S, Zhuang J, Lin N
Birth Defects Res 2024 May;116(5):e2351. doi: 10.1002/bdr2.2351. PMID: 38766695
Shi X, Lu J, Li L, Wei R, Wu J
Ann Med 2022 Dec;54(1):1297-1302. doi: 10.1080/07853890.2022.2070271. PMID: 35506821Free PMC Article
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
Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH
Ultrasound Obstet Gynecol 2013 Mar;41(3):247-61. Epub 2013 Jan 24 doi: 10.1002/uog.12364. PMID: 23208748

Prognosis

Hu T, Tian T, Zhang Z, Wang J, Hu R, Xiao L, Zhu H, Lai Y, Wang H, Liu S
Am J Obstet Gynecol 2021 May;224(5):516.e1-516.e16. Epub 2020 Oct 26 doi: 10.1016/j.ajog.2020.10.039. PMID: 33122027
Odibo AO, Ghidini A
Prenat Diagn 2014 Jun;34(6):511-7. Epub 2014 Feb 11 doi: 10.1002/pd.4329. PMID: 24436177
Ting YH, Lao TT, Lau TK, Chung MK, Leung TY
J Matern Fetal Neonatal Med 2011 Apr;24(4):555-8. doi: 10.3109/14767058.2010.487140. PMID: 21375370
Odibo AO, Sehdev HM, Dunn L, McDonald R, Macones GA
Obstet Gynecol 2004 Dec;104(6):1229-33. doi: 10.1097/01.AOG.0000148848.49752.37. PMID: 15572481
Bunduki V, Ruano R, Miguelez J, Yoshizaki CT, Kahhale S, Zugaib M
Ultrasound Obstet Gynecol 2003 Feb;21(2):156-60. doi: 10.1002/uog.31. PMID: 12601838

Clinical prediction guides

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
Chen X, Jiang Y, Zeng S, Zhuang J, Lin N
Birth Defects Res 2024 May;116(5):e2351. doi: 10.1002/bdr2.2351. PMID: 38766695
Shi X, Lu J, Li L, Wei R, Wu J
Ann Med 2022 Dec;54(1):1297-1302. doi: 10.1080/07853890.2022.2070271. PMID: 35506821Free PMC Article
Ting YH, Lao TT, Lau TK, Chung MK, Leung TY
J Matern Fetal Neonatal Med 2011 Apr;24(4):555-8. doi: 10.3109/14767058.2010.487140. PMID: 21375370
Odibo AO, Sehdev HM, Dunn L, McDonald R, Macones GA
Obstet Gynecol 2004 Dec;104(6):1229-33. doi: 10.1097/01.AOG.0000148848.49752.37. PMID: 15572481

Recent systematic reviews

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

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