Otocephaly: a case report
Keywords:Otocephaly, Agnathia, Aglossia
A case of otocephaly was reported in 26±4 week’s female fetus during routine fetal autopsy at GMCH, Chandigarh, India. Mother was 25 years old, second gravid. The first child is one year old normal male baby. Present pregnancy resulted in spontaneous abortion. Antenatal history, past history, family history and medical history of mother was not suggestive of any ethiological factor responsible for the defect. The external examination showed 2 vessels in umbilical cord. There was anteroposterior lengthening of skull, mouth was in the form of a proboscis with a small opening in the centre, the right ear was absent. The left pinna was low placed and had small tags. On internal examination oral cavity was found small with hypoplastic mandible, tongue was absent (aglossia), thoracic cavity was small, left lung was absent, right lung had only single lobe, heart dilated with normal position of major vessels, In abdominal cavity gut was opening in a dilated cloaca like chamber. X-ray examination revealed small hypoplastic mandible and maxilla. Otocephaly is a rare lethal syndrome of microstomia, agnatia and ear anomalies. Other anomalies associated are holoprosenxcephaly, skeletal, genitourinary, cardiovascular system, endocrine gland hypoplasia etc. The differential diagnosis includes Treacher Collins syndrome, Goldenhar syndrome and Mobius syndrome. The etiology, incidence, causative factors of this case will be discussed in light of available literature.
Pauli RM, Pettersen JC, Arya S, Gilbert EF. Familial agnathia- holoprosencephaly. Am J Med Genet. 1983;14:677-98.
Chaouli R, Heling KS, Thiel G, Karl AK. Otocephaly with Holoprosencephaly on prenatal three -dimensional ultrasound. Ultrasound Obstet Gynecol. 2011;37:745-8.
Stevenson AC, Johnston HA, Stewart MIO. Congenital malformation: A report of a study of series of consecutive births in 24 centers. Bull WHO. 1966;34:1.
Gekas J, Li B, Kamnasaran D. Current perspectives on the etiology of agnathia- otocephaly. European Journal of Medicine Genet. 2010;53:358-66.
Faye-Petersen O, David E, Rangwala N, Seaman JP, Hua Z, Heller DS. Otocephaly: report of ﬁve new cases and a literature review. Fetal Pediatr Pathol. 2006;25:277-96.
Erlich, Cunningham, hudgins: Transmission of the dysgnathia complex from mother to daughter. Am. J. Med. Genet. 2000;95:269-74.
Persutte WH, Lenke RR, DeRosa RT: Prenatal ultrasono- graphic appearance of the agnathia malformation com- plex. J Ultrasound Med. 1990;9:725-5.
Scholl HW: In utero diagnosis of agnathia, microstomia, and synotia. Obstet Gynecol. 1977;6:49:81s.
Stoler JM, Holmes LB: A case of agnathia, situs inversus, and a normal central nervous system. Teratology. 1992;46:213.
Ibba RM, Zoppi MA, Floris M, Putzolu M, Monni G, Sardu G, et al. Otocephaly: prenatal diagnosis of a new case and etipathogenetic considerations. Am. J. Med. Genet. 2000;90:427-9.
Chassaing N, Sorrentino S, Davis EE, Martin- Coignard D, Iacovelli A. OTX2 mutations contribute to the otocephaly-dysgnathia complex. J Med Genet.
Tan TY, Farlie PG: Rare syndromes of the head and face-Pierre Robin sequence. Wiley Inter- discip Rev Dev Biol. 2013;2:369-77.
Rahmani R, Dixon M, Chitayat D, Korb E, Meredith STB, Toi A. Otocephaly: Prenatal Sonographic Diagnosis. J Ultrasound Med. 1998;17:595-8.
Leech RW, Bowlby LS, Brumback RA. Agnathia, holo- prosencephaly, and situs inversus: Report of a case. Am J Med Genet. 1988;29:483.
Wagner JH, Herbene JFM, Edward AJ, Jurandir PP. Agnatia –otocephaly: prenatal diagnosis by two-and three-dimensional ultrasound and magnetic resonance imaging. Case report. Med Ultrason. 2014;16(4):377-79.
Kwei-Shuai H, Dah-Ching D, Yin-Kwan C, Wei-Hwa C, Tang-Yuan C. Otocephaly. J Chin Med Assoc. 2007;70:7.
Ozden S, Bilgic R, Delikara N, Basaran T. The sixth clinical report of a rare association: agnathia-holoprosencephaly-situs inversus. Prenat Diagn. 2002;22:840-2.
Puvabanditisn S, Garrow U, Chowdawarapu PB. Otocephaly and pulmonary malformation association: two case reports. Genet Counsel. 2006;17:167-71.
Wright B, Wagner K. Types of subnormal development of the head from inbred strains of guinea pigsand their bearing on the classification and interpretation of vertebrates. Am J Anat. 1934;54:383.
Hersh JH, McChane RH, Rosenberg EM, Powers WH, Corrigan C, Pancratz L. Otocephaly-midline malformation association. Am J Med Genet. 1989;34:246-9.
Chen CP, Chang TY, Huang JK, Wang W. Early second- trimester diagnosis of fetal otocephaly.
Ultrasound Obstet Gynecol. 2007;29:470-1.
Lin HH, Liang RI, Chang FM, Chang CH, Yu CH, Yang HB. Prenatal diagnosis of otocephaly using two-dimensional and three-dimensional ultrasonography. Ultrasound Obstet Gynecol. 1998;11:361-3.
Ducarme G, Largilliere C, Amarenco B, Davitian C, Bucourt M, Vazquez MP, et al. Three-dimensional ultra- sound inprenatal diagnosis of isolated otocephaly. Prenat Diagn. 2007;27:481-3.
Ahfield JF. Missbildingen des Menschen. Leipzig, Germany. 1882;166:164.
Black FO, Myers EN, Rorke LB: Aplasia of the first and second branchial arches. Arch Otolaryngol. 1973;98:124.
Brecht K, Johnson CM 3rd. Complete mandibular agenesis: report of a case. Arch Otolaryngol. 1985;111:132-4.
O’Neill BM, Alessi AS, Petti NA. Otocephaly or agnathia– synotia–microstomia syndrome: report of a case. J Oral Maxillofac Surg. 2003;61:834-7.
Schiffer C, Tariverdian S, Thomas S. Agnatia-otocephaly complex: report of three cases with involvement of two different Carnegie stages. Am J Med Genet. 2002;112:203-8.