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Agnathia

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Atlas of Genetic Diagnosis and Counseling

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Agnathia is an extremely rare lethal neurocristopathy. The disorder has also been termed agnathia-holoprosencephaly spectrum, agnathia-otocephaly complex, agnathia-astomia-synotia, or cyclopia-otocephaly association. The incidence is estimated to be 1 in 70,000 infants (Schiffer et al. 2002).

The spectrum of agnathia ranges from isolated agnathia, or virtual absence of the mandible, to otocephaly, which refers to a broader malformation of mandibular hypoplasia or agnathia, downward displacement of the ears and/or synotia (approximation of the ears in the midline), with or without aglossia (no tongue), and microstomia (small mouth) (Petrikovsky 1999). Agnathia-otocephaly is a lethal malformation complex characterized by absence of the mandible, microstomia, aglossia, and positioning of the ears toward the midline (Pauli et al. 1981; Bixler et al. 1985). Although ear positioning is variable and the use of the term “otocephaly” does not seem always justified, otocephaly is commonly used...

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References

  • Baker, P. A., Aftimos, S., & Anderson, B. J. (2004). Airway management during an EXIT procedure for a fetus with dysgnathia complex. Pediatric Anesthesia, 14, 781–786.

    Article  PubMed  Google Scholar 

  • Benawra, R., Mangurten, H. H., & Duffell, D. R. (1980). Cyclopia and other anomalies following maternal ingestion of salicylates. Journal of Pediatrics, 96, 1069–1071.

    Article  PubMed  CAS  Google Scholar 

  • Bixler, D., Ward, R., & Gale, D. D. (1985). Agnathia-holoprosencephaly: A developmental field complex involving face and brain. Report of 3 cases. Journal of Craniofacial Genetics and Developmental Biology, 1(Suppl), 241–249.

    CAS  Google Scholar 

  • Blaas, H. G., Eriksson, A. G., Salvesen, K. A., et al. (2002). Brains and faces in holoprosencephaly: Pre- and postnatal description of 30 cases. Ultrasound in Obstetrics & Gynecology, 19, 24–38.

    Article  CAS  Google Scholar 

  • Brecht, K., & Johnson, C. M., III. (1985). Complete mandibular agenesis. Report of a case. Archives of Otolaryngology, 111, 132–134.

    Article  PubMed  CAS  Google Scholar 

  • Carles, D., Serville, F., Mainguene, M., et al. (1987). Cyclopia-otocephaly association: A new case of the most severe variant of Agnathia-holoprosencephaly complex. Journal of Craniofacial Genetics and Developmental Biology, 7, 107–113.

    PubMed  CAS  Google Scholar 

  • Chen, C. P., Chang, T. Y., Huang, J. K., et al. (2007). Early second-trimester diagnosis of fetal otocephaly. Ultrasound in Obstetrics & Gynecology, 29, 470–478.

    Article  Google Scholar 

  • Chen, C. P., Wang, K. G., Huang, J. K., et al. (2003). Prenatal diagnosis of otocephaly with microphthalmia/anophthalmia using ultrasound and magnetic resonance imaging. Ultrasound in Obstetrics & Gynecology, 22, 214–217.

    Article  Google Scholar 

  • Cohen, M. M. (1989). Perspectives on holoprosencephaly: Par III. Spectra, distinctions, continuities and discontinuities. American Journal of Medical Genetics, 34, 271–288.

    Article  PubMed  Google Scholar 

  • Ducarme, G., Largilliere, C., Amarenco, B., et al. (2007). Three-dimensional ultrasound in prenatal diagnosis of isolated otocephaly. Prenatal Diagnosis, 27, 481–483.

    Article  PubMed  Google Scholar 

  • Ebina, Y., Yamada, H., Kato, E. H., et al. (2001). Prenatal diagnosis of agnathia-holoprosencephaly: Three-dimensional imaging by helical computed tomography. Prenatal Diagnosis, 21, 68–71.

    Article  PubMed  CAS  Google Scholar 

  • Erlich, M. S., Cunningham, M. L., & Hudgins, L. (2000). Transmission of the dysgnathia complex from mother to daughter. American Journal of Medical Genetics, 95, 269–274.

    Article  PubMed  CAS  Google Scholar 

  • Faye-Petersen, O., David, E., Rangwala, N., et al. (2006). Otocephaly: Report of five new cases and a literature review. Fetal and Pediatric Pathology, 25, 277–296.

    Article  PubMed  Google Scholar 

  • Henekam, R. C. (1990). Agnathia-holoprosencephaly: A midline malformation association. American Journal of Medical Genetics, 36, 525.

    Article  Google Scholar 

  • Hersh, J. H., McChane, R. H., Rosenberg, E. M., et al. (1989). Otocephaly-midline malformation association. American Journal of Medical Genetics, 34, 246–249.

    Article  PubMed  CAS  Google Scholar 

  • Hinojosa, R., Green, J. D., Brecht, K., et al. (1996). Otocephalus: Histopathology and three-dimensional reconstruction. Otolaryngology Head Neck Surgery, 114, 44–53.

    Article  CAS  Google Scholar 

  • Ibba, R. M., Zoppi, M. A., Floris, M., et al. (2000). Otocephaly: Prenatal diagnosis of a new case and etiopathogenetic considerations. American Journal of Medical Genetics, 90, 427–429.

    Article  PubMed  CAS  Google Scholar 

  • Johnson, W. W., & Cook, J. B. (1961). Agnathia associated with pharyngeal isthmus atresia and hydramnios. Archives of Pediatrics, 78, 211–217.

    PubMed  CAS  Google Scholar 

  • Juriloff, D. M., Sulik, K. K., Roderick, T. H., et al. (1985). Genetic and developmental studies of a new mouse mutation that produces otocephaly. Journal of Craniofacial Genetics and Developmental Biology, 5, 121–145.

    PubMed  CAS  Google Scholar 

  • Kamiji, T., Takagi, T., Akizuki, T., et al. (1991). A long surviving case of holoprosencephaly agnathia series. British Journal of Plastic Surgery, 44, 386–389.

    Article  PubMed  CAS  Google Scholar 

  • Kauvar, E. F., Solomon, B. D., Curry, C. J. R., et al. (2010). Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 154C, 158–169.

    Article  PubMed  Google Scholar 

  • Krassikoff, N., & Sekhon, G. S. (1989). Familial agnathia-holoprosencephaly caused by an inherited unbalanced translocation and not autosomal recessive inheritance. American Journal of Medical Genetics, 34, 255–257.

    Article  PubMed  CAS  Google Scholar 

  • Lawrence, D., & Bersu, E. T. (1985). An anatomical study of human otocephaly. Teratology, 30, 155–165.

    Article  Google Scholar 

  • Leech, R. W., Bowlby, L. S., Brumback, R. A., et al. (1988). Agnathia, holoprosencephaly, and situs inversus: Report of a case. American Journal of Medical Genetics, 29, 483–490.

    Article  PubMed  CAS  Google Scholar 

  • Matsuo, I., Kuratani, S., Kimura, C., et al. (1995). Mouse Otx2 functions in the formation and patterning of rostral head. Genes and Development, 9, 2646–2658.

    Article  PubMed  CAS  Google Scholar 

  • Meinecke, P., Padberg, B., & Laas, R. (1990). Agnathia, holoprosencephaly, and situs inversus: A third report. American Journal of Medical Genetics, 37, 286–287.

    Article  PubMed  CAS  Google Scholar 

  • Mollica, F., Pavone, L., Nuciforo, G., et al. (1979). A case of cyclopia. Role of environmental factors. Clinical Genetics, 16, 69–71.

    Article  PubMed  CAS  Google Scholar 

  • Özden, S., Fiçicioğlu, C., Kara, M., et al. (2000). Agnathia-holoprosencephaly-situs inversus. American Journal of Medical Genetics, 91, 235–236.

    Article  PubMed  Google Scholar 

  • Pauli, R. M., Graham, J. M., Jr., & Barr, M., Jr. (1981). Agnathia, situs inversus, and associated malformations. Teratology, 23, 85–93.

    Article  PubMed  CAS  Google Scholar 

  • Pauli, R. M., Pettersen, J. C., Arya, S., et al. (1983). Familial agnathia-holoprosencephaly. American Journal of Medical Genetics, 14, 677–698.

    Article  PubMed  CAS  Google Scholar 

  • Petrikovsky, B. M. (1999). Fetal disorders. Diagnosis and management (p. 43). New York: Wiley-Liss.

    Google Scholar 

  • Rolland, M., Sarramon, M. F., & Bloom, M. C. (1991). Astomia-agnathia-holoprosencephaly association. Prenatal diagnosis of a new case. Prenatal Diagnosis, 11, 199–203.

    Article  PubMed  CAS  Google Scholar 

  • Santana, S. M., et al. (1987). Agnathia and associated malformations. Dysmorphic Clinical Genetics, 1, 58–63.

    Google Scholar 

  • Schiffer, C., Tariverdian, G., Schiesser, M., et al. (2002). Agnathia-otocephaly complex: Report of three cases with involvement of two different Carnegie stages. American Journal of Medical Genetics, 112, 203–208.

    Article  PubMed  Google Scholar 

  • Scholl, H. W., Jr. (1977). In utero diagnosis of agnathia, microstomia, and synotia. Obstetrics and Gynecology, 49(1 Suppl), 81–83.

    PubMed  Google Scholar 

  • Shermak, M. A., & Dufresne, C. R. (1996). Nonlethal case of otocephaly and its implications for treatment. The Journal of Craniofacial Surgery, 7, 372–375.

    Article  PubMed  CAS  Google Scholar 

  • Suda, Y., Nakabayashi, J., Matsuo, I., & Aizawa, S. (1999). Functional equivalency between Otx2 and Otx1 in development of the rostral head. Development, 126, 743–757.

    PubMed  CAS  Google Scholar 

  • Tantbirojn, P., Taweevisit, M., Sritippayawan, S., et al. (2008). Prenatal three-dimensional ultrasonography of agnathia-otocephaly. Journal of Obstetrics and Gynaecology Research, 34, 663–665.

    Article  PubMed  Google Scholar 

  • Umekawa, T., Sugiyama, T., Yokochi, A., et al. (2007). A case of agnathia-otocephaly complex assessed prenatally for ex utero intrapartum treatment (EXIT) by three-dimensional ultrasonography. Prenatal Diagnosis, 27, 679–681.

    Article  PubMed  Google Scholar 

  • Walker, P. J., Edwards, M. J., Petroff, V., et al. (1995). Agnathia (severe micrognathia), aglossia and choanal atresia in an infant. Journal of Paediatrics and Child Health, 31, 358–361.

    Article  PubMed  CAS  Google Scholar 

  • Wright, S. (1934). On the genetics of subnormal development of the head (otocephaly) in the guinea pig. Genetics, 19, 471–504.

    PubMed  CAS  Google Scholar 

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Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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(2012). Agnathia. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_5

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