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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 -
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) 2010A case of otocephaly with anencephaly and meningomyelocele: Otocephaly is a rare lethal syndrome with microstomia, aglossia, agnathia, and synotia as major clinical...
A case of otocephaly with anencephaly and meningomyelocele: Otocephaly is a rare lethal syndrome with microstomia, aglossia, agnathia, and synotia as major clinical features due to arrest in development of the first branchial arch. Some associated anomalies may be present as cyclopia, holoprosencephaly, cerebellar hypoplasia, situs inversus, and other visceral anomalies. We describe a case of fetus, spontaneously aborted in the 14th week of gestation with otocephaly complex (agnathia, synotia, microstomia) and associated anencephaly and meningomyelocele.
Topics: Abnormalities, Multiple; Abortion, Spontaneous; Adult; Anencephaly; Branchial Region; Consanguinity; Ear, External; Female; Humans; Male; Meningomyelocele; Mouth Abnormalities; Pregnancy; Pregnancy Trimester, First; Turkey
PubMed: 20964124
DOI: No ID Found -
European Journal of Medical Genetics 2010Agnathia-otocephaly, a rare, sporadic and lethal malformation, is characterized by microstomia (small mouth), aglossia (absence of the tongue), agnathia (absence of the... (Review)
Review
Agnathia-otocephaly, a rare, sporadic and lethal malformation, is characterized by microstomia (small mouth), aglossia (absence of the tongue), agnathia (absence of the lower jaw) and abnormally positioned ears. It is a principal anomaly derived from the first pharyngeal arch as a consequence of failed mesenchymal migration of the maxillary prominence and atrophy in the development of the mandibular prominences. Unfortunately, these patients have poor prognoses and may succumb to death shortly after birth due to respiratory problems if appropriate airway management is not implemented. Difficulties persist in the prenatal diagnosis of agnathia-otocephalic patients. However, two- and three-dimensional ultrasonography, computed tomography and magnetic resonance imaging technologies now offer significant improvements in refining the resolution of distinctive facial anomalies. This complex disorder can be attributed to both genetic and teratogenic causes, in addition to other unidentifiable factors. Furthermore, studies in model organisms, in particular mice, have unraveled potential genetic pathways that may contribute to the etiology. This article highlights current perspectives on agnathia-otocephaly with a focus on the etiological causes and issues concerning prenatal diagnosis, differential diagnosis, prognosis and genetic counseling. Finally, studies using animal models especially genetically engineered mice are described to comprehend the molecular genetic interactions that may occur during the genesis of this intriguing craniofacial birth defect.
Topics: Abnormalities, Multiple; Airway Management; Animals; Branchial Region; Ear; Face; Female; Fetal Diseases; Humans; Magnetic Resonance Imaging; Mandible; Maxillofacial Abnormalities; Mice; Mice, Transgenic; Microstomia; Pregnancy; Prenatal Diagnosis; Syndrome; Tomography, X-Ray Computed; Tongue; Ultrasonography, Prenatal
PubMed: 20849990
DOI: 10.1016/j.ejmg.2010.09.002 -
The Central African Journal of Medicine 2010Pharyngeal 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,...
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 field structures, such as the forebrain and axial body structures.
Topics: Abnormalities, Multiple; Anus, Imperforate; Craniofacial Abnormalities; Ear, External; Fatal Outcome; Female; Humans; Infant, Newborn; Jaw Abnormalities; Male; Microstomia; Polydactyly; Polyhydramnios; Pregnancy; Ultrasonography
PubMed: 23457854
DOI: No ID Found -
Fetal and Pediatric Pathology 2010Otocephaly is a severe and lethal malformation. We report a new case of a fetus with agnathia-otocephaly, presenting only the facial findings but with otherwise normal...
Otocephaly is a severe and lethal malformation. We report a new case of a fetus with agnathia-otocephaly, presenting only the facial findings but with otherwise normal organs. The fetal karyotype was normal. We examined the fetal DNA for uniparental disomy of chromosomes 3 and 4, since the mother is a carrier of a t(3;4) chromosome, but did not identify any evidence. We were also unable to find mutations or possible associations with candidate otocephalic genes, including OTX2 and PGAP1. These findings suggest that the molecular etiology of agnathia-otocephaly is still unknown with a mutation yet to be identified in humans.
Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosome Banding; DNA Mutational Analysis; Ear; Fatal Outcome; Female; Genotype; Gestational Age; Humans; Male; Maxillofacial Abnormalities; Membrane Proteins; Mutation; Otx Transcription Factors; Phosphoric Monoester Hydrolases; Pregnancy; Prenatal Diagnosis; Tomography, X-Ray Computed; Ultrasonography, Prenatal; Young Adult
PubMed: 20594144
DOI: 10.3109/15513811003796946 -
The Journal of the Louisiana State... 2008
Topics: Abnormalities, Multiple; Female; Fetus; Gestational Age; Humans; Mandible; Maxillofacial Abnormalities; Polyhydramnios; Pregnancy; Tomography, X-Ray Computed; Ultrasonography, Prenatal
PubMed: 19283980
DOI: No ID Found -
The Journal of Obstetrics and... Aug 2008A case of prenatally diagnosed agnathia-otocephaly is reported. Agnathia is an extremely rare anomaly characterized by an absence or hypoplasia of the mandible and... (Review)
Review
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.
Topics: Abnormalities, Multiple; Adult; Female; Humans; Imaging, Three-Dimensional; Male; Maxillofacial Abnormalities; Pregnancy; Ultrasonography, Prenatal
PubMed: 18840176
DOI: 10.1111/j.1447-0756.2008.00904.x -
Pediatric and Developmental Pathology :... 2008Agnathia (otocephaly) is a sporadic malformation characterized by agenesis of the mandible with characteristic dysmorphologic sequelae. We compare the prenatal...
Two cases of agnathia (otocephaly): with review of the role of fibroblast growth factor (FGF8) and bone morphogenetic protein (BMP4) in patterning of the first branchial arch.
Agnathia (otocephaly) is a sporadic malformation characterized by agenesis of the mandible with characteristic dysmorphologic sequelae. We compare the prenatal presentations and dysmorphologic abnormalities of 2 female fetuses with agnathia. Fetus 1 was delivered at 33 weeks' gestational age and showed agnathia with characteristic sequelae of microstomia; microglossia; persistent buccopharyngeal membrane; and ventrally placed, malformed external ears. Fetus 2 was delivered at 32 weeks' gestational age and exhibited agnathia, astomia, and microglossia; in contrast to fetus 1, however, the external ears were laterally placed, low set, and malformed. For both fetuses, tridimensional computed tomographic scan showed the unique complete absence of the mandible. Additional malformations were documented and differed between the fetuses. We discuss the current molecular mechanisms implicated in 1st branchial arch patterning, particularly the impact of bone morphogenetic protein and fibroblast growth factor 8, and how these findings have the potential to explain the spectrum of abnormalities present in these 2 fetuses with agnathia without associated holoprosencephaly.
Topics: Abnormalities, Multiple; Bone Morphogenetic Protein 4; Bone Morphogenetic Proteins; Branchial Region; Fatal Outcome; Female; Fibroblast Growth Factor 8; Gestational Age; Humans; Infant, Newborn; Mandible; Maxillofacial Abnormalities
PubMed: 18173302
DOI: 10.2350/07-09-0351.1 -
Clinical Dysmorphology Jan 2008
Topics: Abnormalities, Drug-Induced; Ear; Female; Humans; Male; Mandible; Maternal Exposure; Pregnancy; Salicylic Acid; Stillbirth
PubMed: 18049088
DOI: 10.1097/MCD.0b013e3282f16979