Low-set ears
| 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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