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Gene Feb 2012Agnathia-otocephaly is a rare, often lethal malformation characterized by absence or hypoplasia of the mandible, microstomia, hypoglossia/aglossia, and variable anterior...
Agnathia-otocephaly is a rare, often lethal malformation characterized by absence or hypoplasia of the mandible, microstomia, hypoglossia/aglossia, and variable anterior midline fusion of the ears (melotia, synotia). Etiologies have been linked to both genetic and teratogenic factors and to date, a definitive, commonly identifiable cause has not been recognized. Mouse and human genetic studies have implicated OTX2 and PRRX1 as potential candidate genes for agnathia-otocephaly. In this study we report a sporadic case of agnathia-otocephaly complex with associated features of maldevelopment and examine the roles of OTX2 and PRRX1. The proband, a male born at 31 weeks, displayed severe micrognathia, microstomia, posteriorly-rotated and low set ears, and downward slanting palpebral fissures. Mutation analysis was performed after sequencing the entire coding regions of OTX2 and PRRX1 genes isolated from the proband and his parents. After thorough analysis, no DNA variations were detected. This suggests that mutations in different genes or environmental causes are responsible.
Topics: Ear; Holoprosencephaly; Homeodomain Proteins; Humans; Infant, Newborn; Jaw Abnormalities; Otx Transcription Factors
PubMed: 22198066
DOI: 10.1016/j.gene.2011.11.033 -
Medical Ultrasonography Dec 2014A case of prenatally diagnosed otocephaly is reported. Otocephaly is an extremely rare malformation characterized by absence or hypoplasia of the mandible and abnormal...
A case of prenatally diagnosed otocephaly is reported. Otocephaly is an extremely rare malformation characterized by absence or hypoplasia of the mandible and abnormal horizontal position of the ears. 2D ultrasound performed at 25 weeks of gestation revealed agnathia, proboscis and hypotelorism. 3D ultrasound (rendering mode) and magnetic resonance imaging were used to evaluate the facial features, and were essential for characterization of facial malformations in otocephaly and for the demonstration and correct prenatal counseling of the couple.
Topics: Abnormalities, Multiple; Adult; Craniofacial Abnormalities; Fatal Outcome; Female; Humans; Imaging, Three-Dimensional; Infant, Newborn; Magnetic Resonance Imaging; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 25463893
DOI: 10.11152/mu.201.3.2066.164.wjh1 -
Clinical Genetics Mar 2011
Topics: Abnormalities, Multiple; Adult; Animals; COS Cells; Chlorocebus aethiops; Female; Fetal Death; Gene Expression Regulation, Developmental; Heterozygote; Homeodomain Proteins; Humans; Male; Mutation
PubMed: 21294718
DOI: 10.1111/j.1399-0004.2010.01531.x -
Genetic Counseling (Geneva, Switzerland) 2006Otocephaly is a rare lethal malformation of the first and second branchial arches. We report two infants with otocephaly and failed resuscitation. Both infants had...
Otocephaly is a rare lethal malformation of the first and second branchial arches. We report two infants with otocephaly and failed resuscitation. Both infants had pulmonary malformations: pulmonary hypoplasia and two-lobed right lung. We report these rare associations with a brief review of the literature.
Topics: Abnormalities, Multiple; Central Nervous System; Ear; Fatal Outcome; Heart Defects, Congenital; Humans; Infant, Newborn; Lung; Male; Mandible; Urogenital Abnormalities
PubMed: 16970034
DOI: No ID Found -
Ultrasound in Obstetrics & Gynecology :... Jun 2011
Topics: Abortion, Induced; Female; Holoprosencephaly; Humans; Imaging, Three-Dimensional; Infant, Newborn; Male; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 21465602
DOI: 10.1002/uog.9009 -
Journal of Ultrasound in Medicine :... Jul 1985
Topics: Abnormalities, Multiple; Brain; Ear; Eye Abnormalities; Face; Female; Humans; Jaw Abnormalities; Male; Pregnancy; Prenatal Diagnosis; Skull; Ultrasonography
PubMed: 3925160
DOI: 10.7863/jum.1985.4.7.377 -
BMJ Case Reports Aug 2017Cyclopia is a rare form of lethal holoprosencephaly (HPE) due to incomplete cleavage of prosencephalon during embryogenesis, leading to failure of the orbits of the eye...
Cyclopia is a rare form of lethal holoprosencephaly (HPE) due to incomplete cleavage of prosencephalon during embryogenesis, leading to failure of the orbits of the eye to divide into two cavities. We report two cases, one with cyclopia and another case of cyclopia with agnathia-otocephaly complex (AOC). AOC (also known as agnathia-microstomia-synotia syndrome) is a rare lethal congenital malformation of the first branchial arch characterised by the association of agnathia (agenesis of mandible) or mandibular hypoplasia, melotia (anteromedial malposition of ears), microstomia (small mouth), aglossia or microglossia (absent or rudimentary tongue). These two reported cases had in common a single eye and alobar HPE. The first case was live born and the second stillborn. Both mothers did not have antenatal care.
Topics: Craniofacial Abnormalities; Ear, External; Female; Holoprosencephaly; Humans; Infant, Newborn; Jaw Abnormalities; Live Birth; Microstomia; Stillbirth
PubMed: 28855214
DOI: 10.1136/bcr-2017-220159 -
The Journal of Craniofacial SurgeryAgnathia-otocephaly complex (AOC), a first branchial arch defect, is characterized by mandibular hypoplasia or aplasia, ear abnormalities, microstomia, and macroglossia...
Agnathia-otocephaly complex (AOC), a first branchial arch defect, is characterized by mandibular hypoplasia or aplasia, ear abnormalities, microstomia, and macroglossia and is a rare and often fatal diagnosis. Herein, the technical considerations and details of mandibular reconstruction using virtual surgical planning (VSP) and a vascularized free fibula flap for further mandibular reconstruction in a 10-year-old boy are presented. The patient's preoperative examination was consistent with agnathia (absence of mandibular symphysis, bilateral mandibular bodies, condyles, coronoids, rami, and temporomandibular joint), severe microstomia, and a Tessier # 30 cleft (maintained to allow oral access until later in treatment). Virtual surgical planning was utilized to plan a 3-segment fibula for the reconstruction of the mandibular symphysis and bilateral body segments, and bilateral costochondral grafts were planned for the rami. To the authors' knowledge, this represents the first application of virtual surgical planning for mandibular reconstruction with a vascularized free fibula flap in a pediatric patient with severe agnathia-otocephaly complex.
Topics: Male; Humans; Child; Microstomia; Fibula; Craniofacial Abnormalities; Free Tissue Flaps; Mandible; Jaw Abnormalities; Mandibular Reconstruction
PubMed: 36217223
DOI: 10.1097/SCS.0000000000009017 -
Veterinary Pathology Nov 2012Aprosencephaly is a rare condition in veterinary and human medicine characterized by the complete absence of telencephalon and diencephalon. Some cases are accompanied...
Aprosencephaly is a rare condition in veterinary and human medicine characterized by the complete absence of telencephalon and diencephalon. Some cases are accompanied by a facial dysmorphism designated as otocephaly. A stillborn lamb had splanchnocranial anomalies that were classified by computed tomography, magnetic resonance imaging, and pathologic examination as aprosencephaly and otocephaly. The brain included parts of the cerebellum and brainstem but no telencephalon, diencephalon, or mesencephalon. The cerebellum had a structurally normal cortex with expression of neuronal nuclear antigen in the inner and doublecortin in the outer granular cell layers, as well as an irregularly situated nucleus dentatus. Aprosencephaly with otocephaly has been described in mice with heterozygous mutations in the Otx2 gene; however, no causative polymorphisms were detected in the Otx2 gene region of this lamb.
Topics: Anencephaly; Animals; Brain Stem; Cerebellum; Craniofacial Abnormalities; DNA; Female; Immunohistochemistry; Magnetic Resonance Imaging; Male; Otx Transcription Factors; Phenotype; Pregnancy; Sequence Analysis, DNA; Sheep; Sheep Diseases; Skull; Stillbirth; Tomography, X-Ray Computed
PubMed: 22431914
DOI: 10.1177/0300985812439722 -
The Journal of Craniofacial Surgery 2020Agnathia-otocephaly complex (AOC) is a rare malformation complex of the first pharyngeal arch that is characterized by agnathia/dysgnathia, microstomia,...
Agnathia-otocephaly complex (AOC) is a rare malformation complex of the first pharyngeal arch that is characterized by agnathia/dysgnathia, microstomia, aglossia/hypoglossia and variable displacement of the ears. Only 11 post-infancy patients with severe AOC have been described in the literature, and the incidence of this malformation complex is estimated to be 1 per 70,000 births. In this brief clinical study, the authors describe the case of an 18-year-old female diagnosed with AOC who underwent a 3-step mandibular distraction protocol with an external distraction device. The surgical protocol the authors used was unique in that we first placed a tissue expander in the submental area to enlarge the skin envelope in an effort to mitigate skeletal relapse from soft tissue forces. Furthermore, the way in which the authors slowed the activation of the distraction device to allow for soft tissue healing behind the pins was a novel component of the patient's treatment. The 3-step mandibular distraction protocol the authors present in this study increased the length of the mandible by 20 mm, and nearly doubled the size of the patient's mandible from an initial volume of 3.62 cm to a post-operative volume of 6.89 cm. Future surgeries will aim to improve the function of our patient's expanded mandible. Most important of all, the surgical treatment authors are presenting led to a significant improvement in our patient's physical appearance and 3d quality of life.
Topics: Adolescent; Craniofacial Abnormalities; Female; Humans; Jaw Abnormalities; Mandible; Osteogenesis, Distraction; Quality of Life
PubMed: 31634311
DOI: 10.1097/SCS.0000000000005945