The location of the fetal ears: A hint for prenatal diagnosis of agnathia‐otocephaly complex (original) (raw)
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Medical Ultrasonography, 2014
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.
Otocephaly: a case postnatal diagnosed
Otocephaly is characterized by agenesis or severe hypogenesis of the mandible or agnathia, synotia (the external ears horizontally placed and/or fused), microstomia (" small mouth "), aglossia (congenital absence of the tongue). This anomaly is often associated with other malformations as; Holoprosencephaly, anencephaly, congenital heart disease, tracheoesophageal fistula etc. The etiology is unknown. The pathogenetic mechanism seems to be related to a complete failure of the mandibular development, possibly associated with inhibited or arrested migration of neural crest cells. Three-dimensional ultrasound is often the only way to obtain an overall idea of the anomaly. The virtually all views of the fetal face are abnormal, due to the complete distortion of the facial anatomy. Otocephaly has been always lethal, so when detected, an accurate counseling of pregnancy should be offered at parents with also the possibility to offer termination of pregnancy. We report the case of a fetus, who was born on the 30th week of pregnancy, and was diagnosed with otocephaly, after birth.
Prenatal three-dimensional ultrasonography in a case of agnathia-otocephaly
Journal of Obstetrics and Gynaecology Research, 2008
A case of prenatally diagnosed agnathia-otocephaly is reported. Agnathia is an extremely rare anomaly characterized by an absence or hypoplasia of the mandible and abnormal horizontal position of the ears. The targeted 2-D ultrasonography at 24 weeks of gestation revealed abnormal lower facial profile. Surface rendering 3-D ultrasonography was used to evaluate the facial feature, showing excellent image when compared to the fetal face at autopsy. The reported case is discussed with a short review of the literature.
Otocephaly Complex: Case Report, Literature Review, and Ethical Considerations
A & A case reports, 2016
Otocephaly complex is a rare and usually lethal syndrome characterized by a set of malformations consisting of microstomia, mandibular hypoplasia/agnathia, and ventromedial malposition of the ears. Those cases that have been diagnosed prenatally have used an ex utero intrapartum treatment procedure to establish a definitive airway. However, prenatal diagnosis continues to be challenging, primarily because of poor diagnostic sensitivity associated with ultrasonography. We present a case of a newborn with an unanticipated otocephaly complex requiring emergent airway management. In this report, we discuss the medical and ethical issues related to the care of a newborn with this frequently fatal condition.
Agnathia-synotia-microstomia (otocephaly): a case report in an African woman
The Central African journal of medicine
Pharyngeal arches appear in the 4th and 5th weeks of development of the human embryo. The 1st pharyngeal arch develops into the incus and malleus, premaxilla, maxilla, zygomatic bone; part of the temporal bone, the mandible and it contributes to the formation of bones of the middle ear. The musculature of the 1st pharyngeal arch includes muscles of mastication, anterior belly of the digastric mylohyoid, tensor tympani and tensor palatini. The second pharyngeal arch gives rise to the stapes, styloid process of the temporal bone, stylohyoid ligament, the lesser horn and upper part of the body of the hyoid bone. The stapedius muscle, stylohyoid, posterior belly of the digastric, auricular and muscles of facial expressional all derive from the 2nd pharyngeal arch. Otocephaly has been classified as a defect of blastogenesis, with structural defects primarily involving the first and second branchial arch derivatives. It may also result in dysmorphogenesis of other midline craniofacial fie...
Otocephaly : Agnathia Microstomia Synotia Syndrome-A Case Report
2019
Otocephaly is a rare fetal malformation characterized by the association of agnathia (mandibular agenesis)/ mandibular hypoplasia, melotia (ventromedia / auricular malposition) with or without auricular fusion (synotis) and microstomia 1 . This condition is rare, seen in less than 1 in 70000 births 2,3 and is considered lethal because of ventilatory difficulties which typically lead to death in affected babies shortly after birth. To the best of these authors’ knowledge, no case of Otocephaly has been reported in Nigeria and West Africa. We report here a case of Otocephaly complex seen in a Nigerian preterm in a private hospital in PortHarcourt Nigeria.
2004
Otocephaly is a rare congenital malformation of the head and neck caused by maldevelopment of the 1 st and 2 nd pharyngeal arches. It is characterized by absence of the mandible and approximation of the ears in the midline region normally occupied by the mandible. Pathomorphological features of an infant with otocephaly born during 33 rd week of gestation, which died immediately after birth because of the oral cavity atresia, are described. The infant was born from the first (poorly controlled) pregnancy in healthy parents. The putative causative factors of this malformation are briefly dicussed.
Congenital malformations of the ear
The Indian Journal of Pediatrics, 1992
Tile external ear develops from I and II branchial arches commencing on 38th day of fetal life. The middle ear is formed from the ends of Ist pharyngeal puch and the surrounding mesenchyme, which also is part of the I and II branchial arches. The congenital defects of the external and middle ear usually occurs in combination, and many times with congenital defects of other systems. The cochlear functions i.e. bone conduction is normal in 50% of these cases, thus rehabilitation of these patients with congenital anomalies of external and middle ear is possible. The coexistence of congenital aural atresia with varying degrees of malformation of inner ear may be more frequent than generally assumed. Moderate and severe forms of congenital aural atresia area encountered in about 1 in 10,000 to 20,000 individualJ Tile more severe forms of congenital auricular malformation are always associated with meatal atresia, whereas meatal atresia may, in a few cases be seen in patients with a normal pinna. Atresia of the meatus may be membranous or osseus, membranous atresia is much less common and is characterised by rudimentary cartilagenous canal sep~ated from the middle ear by a dense structure of con