Otocephaly

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Classification according to ICD-10
Q18.2 Other branchiogenic malformations –Otocephaly
ICD-10 online (WHO version 2019)

The Otozephalie (from ancient Greek ὄτο oto 'ear', and κέφαλος Cephalus 'head') is a very rare congenital , often lethal malformation of the facial skeleton , in which the lower jaw is not fully applied or partially (agnathia).

Often there is a combination with holoprosencephaly and situs inversus .

The first description comes from 1983 by the US doctors Richard M. Pauli and colleagues.

Spread and cause

The frequency is not known; the inheritance is autosomal . The disease are mutations in PRRX1 - gene on chromosome 1 locus q24.2 basis.

Clinical manifestations

Clinical criteria are:

  • Facial dysmorphia with an incomplete or absent lower jaw
  • often breathing problems or even death quickly
  • often other malformations such as holoprosencephaly, situs inversus or limb defects

diagnosis

Detection is already possible prenatally using fine ultrasound .

Prospect of healing

The prognosis depends on the severity of the facial defects.

literature

  • M. Jones, J. Chung, V. Kimonis, JA Gold: A novel mutation of orthodenticle homeobox 2 contributing to a case of otocephaly initially diagnosed by prenatal ultrasound in the first trimester. In: Clinical dysmorphology. Vol. 26, No. 2, April 2017, pp. 98-100, doi: 10.1097 / MCD.0000000000000145 , PMID 27442045 .

Individual evidence

  1. ↑ a b J. Diep, D. Kam, F. Munir, SM Shulman, G. Atlas: Otocephaly Complex: Case Report, Literature Review, and Ethical Considerations. In: A & A case reports. Vol. 7, No. 2, July 2016, pp. 44-48, doi: 10.1213 / XAA.0000000000000340 , PMID 27258179 (review).
  2. ↑ Agnathia - holoprosencephaly - situs inversus. In: Orphanet (Rare Disease Database).
  3. ^ RM Pauli, JC Pettersen, S. Arya, EF Gilbert: Familial agnathia-holoprosencephaly. In: American journal of medical genetics. Vol. 14, No. 4, April 1983, pp. 677-698, doi: 10.1002 / ajmg.1320140411 , PMID 6846401 .
  4. ↑ Agnathia-otocephaly complex.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ K. Kajiwara, T. Tanemoto, C. Nagata, A. Okamoto: Prenatal Diagnosis of Isolated Agnathia-Otocephaly: A Case Report and Review of the Literature. In: Case reports in obstetrics and gynecology. Vol. 2016, 2016, p. 8512351, doi: 10.1155 / 2016/8512351 , PMID 27579201 , PMC 4989077 (free full text).
  6. ↑ MS Golinko, P. Shetye, RL Flores, DA Staffenberg: Severe Agnathia-Otocephaly Complex: Surgical Management and Longitudinal Follow-up From Birth Through Adulthood. In: The Journal of craniofacial surgery. Vol. 26, No. 8, November 2015, pp. 2387-2392, doi: 10.1097 / SCS.0000000000002150 , PMID 26517463 .