Low-set ears: Difference between revisions
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*[[Down syndrome]]<ref name="urlDowns Syndrome">{{cite web |url=http://www.patient.co.uk/showdoc/40000383/ |title=Down's Syndrome |format= |website= |accessdate=}}</ref> |
*[[Down syndrome]]<ref name="urlDowns Syndrome">{{cite web |url=http://www.patient.co.uk/showdoc/40000383/ |title=Down's Syndrome |format= |website= |accessdate=}}</ref> |
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*[[Turner syndrome]] |
*[[Turner syndrome]] |
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*[[Noonan syndrome]]<ref>{{Cite journal | pmid = 6884370 | year = 1983 | last1 = Sanchez-Cascos | first1 = A. | title = The Noonan syndrome | volume = 4 | issue = 4 | pages = 223–229 | journal = European Heart Journal | doi = 10.1093/oxfordjournals.eurheartj.a061452 }}</ref> |
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*[[Patau syndrome]]<ref name="Ostler2004">{{cite book|author=H. Bruce Ostler|title=Diseases of the eye and skin: a color atlas|url=https://books.google.com/books?id=jewuK_B-3bcC&pg=PA72|accessdate=13 April 2010|year=2004|publisher=Lippincott Williams & Wilkins|isbn=978-0-7817-4999-2|page=72}}</ref> |
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*[[DiGeorge syndrome]]<ref name="CrocettiBarone2004">{{cite book|author1=Michael Crocetti|author2=Michael A. Barone|author3=Frank A. Oski|title=Oski's essential pediatrics|url=https://books.google.com/books?id=I3Kh1cNJxyUC&pg=PA675|accessdate=27 October 2010|year=2004|publisher=Lippincott Williams & Wilkins|isbn=978-0-7817-3770-8|page=675}}</ref> |
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*[[Cri du chat syndrome]] |
*[[Cri du chat syndrome]] |
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*[[Edwards syndrome]] |
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*[[Fragile X syndrome]] |
*[[Fragile X syndrome]] |
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It is usually bilateral, but it can be unilateral in [[Goldenhar syndrome]].<ref>{{Cite GPnotebook|275447838|ear (low set)}}</ref> |
It is usually bilateral, but it can be unilateral in [[Goldenhar syndrome]].<ref>{{Cite GPnotebook|275447838|ear (low set)}}</ref> |
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A lethal form of low-set ears manifests in [[otocephaly]], a very rare disorder characterized by [[agnathia|absence of the mandible (agnathia)]] and partial or total merging of the ears at the midline (synotia). Due to the extent of craniofacial malformations, fetuses with otocephaly never survive to birth. Otocephaly occurs 1 in every 70,000 embryos.<ref>{{cite journal|last1=Jagtap|first1=Sunil V|year=2015|title=Otocephaly: Agnathia- Microstomia-Synotia Syndrome– A Rare Congenital Anomaly|journal=Journal Of Clinical And Diagnostic Research|doi=10.7860/jcdr/2015/13636.6444|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4606241}}</ref> |
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==See also== |
==See also== |
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Revision as of 02:55, 3 June 2019
| Low-set ears | |
|---|---|
| Specialty | Medical genetics  |
Low-set ears are ears with depressed positioning of the pinnae two or more standard deviations below the population average.[1]
It can be associated with conditions such as:
- Down syndrome[2]
- Turner syndrome
- Noonan syndrome[3]
- Patau syndrome[4]
- DiGeorge syndrome[5]
- Cri du chat syndrome
- Edwards syndrome
- Fragile X syndrome
It is usually bilateral, but it can be unilateral in Goldenhar syndrome.[6]
A lethal form of low-set ears manifests in otocephaly, a very rare disorder characterized by absence of the mandible (agnathia) and partial or total merging of the ears at the midline (synotia). Due to the extent of craniofacial malformations, fetuses with otocephaly never survive to birth. Otocephaly occurs 1 in every 70,000 embryos.[7]
See also
References
- ^ Sivan Y, Merlob P, Reisner SH (June 1983). "Assessment of ear length and low set ears in newborn infants". J. Med. Genet. 20 (3): 213–5. doi:10.1136/jmg.20.3.213. PMC 1049049. PMID 6876114.
- ^ "Down's Syndrome".
- ^ Sanchez-Cascos, A. (1983). "The Noonan syndrome". European Heart Journal. 4 (4): 223–229. doi:10.1093/oxfordjournals.eurheartj.a061452. PMID 6884370.
- ^ H. Bruce Ostler (2004). Diseases of the eye and skin: a color atlas. Lippincott Williams & Wilkins. p. 72. ISBN 978-0-7817-4999-2. Retrieved 13 April 2010.
- ^ Michael Crocetti; Michael A. Barone; Frank A. Oski (2004). Oski's essential pediatrics. Lippincott Williams & Wilkins. p. 675. ISBN 978-0-7817-3770-8. Retrieved 27 October 2010.
- ^ "ear (low set)". GPnotebook.
- ^ Jagtap, Sunil V (2015). "Otocephaly: Agnathia- Microstomia-Synotia Syndrome– A Rare Congenital Anomaly". Journal Of Clinical And Diagnostic Research. doi:10.7860/jcdr/2015/13636.6444.
External links
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