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Archives de Pediatrie : Organe Officiel... Feb 1998Hypoglossia is a rare malformation that is not fatal, unlike otocephaly.
UNLABELLED
Hypoglossia is a rare malformation that is not fatal, unlike otocephaly.
CASE REPORT
A neonate, born at 39 weeks of GA and dead at 5th day showed hypoglossia, dextrocardia, situs inversus and pituitary aplasia. Maternal hyperthermia was observed at 4 weeks gestation.
CONCLUSION
This case is reminiscent of a community of syndrome with agnathia-holoprosencephaly and situs inversus. The responsibility of maternal hyperthermia is raised.
Topics: Adult; Congenital Abnormalities; Fatal Outcome; Female; Fever; Humans; Infant, Newborn; Male; Pituitary Gland; Pregnancy; Pregnancy Complications; Situs Inversus; Tongue
PubMed: 10223138
DOI: 10.1016/s0929-693x(97)86831-5 -
Journal of Ultrasound in Medicine :... Sep 1998
Topics: Abnormalities, Multiple; Adult; Ear, External; Female; Fetal Diseases; Humans; Mandible; Ultrasonography, Prenatal
PubMed: 9733181
DOI: 10.7863/jum.1998.17.9.595 -
Ultrasound in Obstetrics & Gynecology :... May 1998We report a case of the prenatal diagnosis of a very rare anomaly, namely isolated otocephaly, using two-dimensional and three-dimensional ultrasound at 24 weeks of...
We report a case of the prenatal diagnosis of a very rare anomaly, namely isolated otocephaly, using two-dimensional and three-dimensional ultrasound at 24 weeks of gestation. Two-dimensional ultrasound revealed polyhydramnios, absence of a stomach shadow, hypotelorism and a proboscis-like mass. Three-dimensional ultrasound gave a precise demonstration of the striking craniofacial features of otocephaly including agnathia, synotia, microstomia and protuberance of the nose-mouth fusion. The use of three-dimensional ultrasound provided a whole view of the very rare lethal malformation in utero and contributed significantly to prenatal diagnosis.
Topics: Abortion, Legal; Adult; Craniofacial Abnormalities; Face; Female; Humans; Ultrasonography, Prenatal
PubMed: 9644778
DOI: 10.1046/j.1469-0705.1998.11050361.x -
Genes To Cells : Devoted To Molecular &... Nov 1996We previously reported that the homozygous mutation of Otx2 gene, a mouse cognate of the Drosophila head gap gene orthodenticle, causes failure in the development of the...
BACKGROUND
We previously reported that the homozygous mutation of Otx2 gene, a mouse cognate of the Drosophila head gap gene orthodenticle, causes failure in the development of the rostral head anterior to rhombomere 3, which may correspond to earlier Otx2 expression in cells destined for the anterior mesoendoderm. At the same time, the Otx2 heterozygous mutation displayed a phenotype characterized as otocephaly, probably related to expression in the anterior neuroectoderm at the subsequent pharyngula stage. Defects were characteristic in the most anterior and posterior regions of Otx2 expression where Otx1, another mouse cognate of orthodenticle, is not or weakly expressed. They were not found in the region where Otx1 is expressed.
RESULTS
In the present work, Otx1 null mutant mice were generated by gene targeting in embryonic stem cells. No defects were apparent in the regionalization of the early embryonic rostral brain. The newborn brain defects were subtle and most likely related to later Otx1-unique expression. Otx1 and Otx2 double heterozygous mutant brains, however, exhibited marked defects throughout the fore- and midbrains, where defects were not apparent with a single mutation alone.
CONCLUSIONS
Otx1 and Otx2 play synergistic roles in the development of the forebrain and midbrain where both genes are expressed.
Topics: Animals; Base Sequence; Body Patterning; Head; Homeodomain Proteins; Mice; Mutation; Nerve Tissue Proteins; Otx Transcription Factors; Phenotype; Prosencephalon; Trans-Activators; Transcription Factors
PubMed: 9077465
DOI: 10.1046/j.1365-2443.1996.900288.x -
The Journal of Craniofacial Surgery Sep 1996Otocephaly is a craniofacial syndrome with a constellation of findings consistent with symmetrically deficient development of the first branchial arch....
Otocephaly is a craniofacial syndrome with a constellation of findings consistent with symmetrically deficient development of the first branchial arch. Characteristically, those affected have ventrally displaced ears, microstomia, and an atrophic to absent mandible. Secondary to oropharyngeal incompetence, ventilatory, difficulties typically lead to the imminent death of these infants shortly after birth. Here we present a patient who survived well beyond the perinatal period with the support of pediatric intensivists and advanced technology available for the diagnosis and treatment of such a complex crajniofacial syndrome.
Topics: Craniofacial Abnormalities; Ear, External; Facial Bones; Female; Humans; Infant, Newborn; Magnetic Resonance Imaging; Medical Futility; Microstomia; Pharynx; Respiratory Insufficiency; Survivors; Tongue
PubMed: 9133850
DOI: 10.1097/00001665-199609000-00011 -
Otolaryngology--head and Neck Surgery :... Jan 1996Otocephaly is a lethal malformation of the first and second branchial arches, which consists of ventromedial displacement of the external ear structures (synotia),...
Otocephaly is a lethal malformation of the first and second branchial arches, which consists of ventromedial displacement of the external ear structures (synotia), mandibular aplasia (agnathia), absence of the tongue (aglossia), and microstomia. We present the first complete description of the temporal bone findings in a case of otocephalus. A three-dimensional computer-assisted reconstruction of the right temporal bone was performed, allowing a unique graphic analysis. An extremely low-lying middle fossa tegmen was noted with malrotation of the middle ear structures. Severe ossicular malformations were also found. An anomalous course of the internal carotid artery was noted with indentation of the basal turn of the cochlea. All three layers of the otic capsule were incompletely developed. Cochlear bony dehiscences were noted. These findings are consistent with early arrest of fetal development and malrotation caused by lack of growth pressure from the mandibular arch. Implications of these findings in the embryologic development of the ear are discussed.
Topics: Abnormalities, Multiple; Branchial Region; Cochlea; Ear; Ear Ossicles; Ear, External; Ear, Inner; Ear, Middle; Face; Facial Nerve; Female; Fetal Death; Humans; Image Processing, Computer-Assisted; Male; Mandible; Microstomia; Petrous Bone; Pregnancy; Temporal Bone; Tongue
PubMed: 8570250
DOI: 10.1016/S0194-59989670282-6 -
Genes & Development Nov 1995The anterior part of the vertebrate head expresses a group of homeo box genes in segmentally restricted patterns during embryogenesis. Among these, Otx2 expression...
The anterior part of the vertebrate head expresses a group of homeo box genes in segmentally restricted patterns during embryogenesis. Among these, Otx2 expression covers the entire fore- and midbrains and takes place earliest. To examine its role in development of the rostral head, a mutation was introduced into this locus. The homozygous mutants did not develop structures anterior to rhombomere 3, indicating an essential role of Otx2 in the formation of the rostral head. In contrast, heterozygous mutants displayed craniofacial malformations designated as otocephaly; affected structures appeared to correspond to the most posterior and most anterior domains of Otx expression where Otx1 is not expressed. The homo- and heterozygous mutant phenotypes suggest Otx2 functions as a gap-like gene in the rostral head where Hox code is not present. The evolutionary significance of Otx2 mutant phenotypes was discussed for the innovation of the neurocranium and the jaw.
Topics: Abnormalities, Multiple; Animals; Base Sequence; Ear; Embryo, Mammalian; Epithelium; Eye Abnormalities; Gene Expression Regulation, Developmental; Gestational Age; Haploidy; Head; Heterozygote; Homeodomain Proteins; Homozygote; Jaw Abnormalities; Mice; Mice, Transgenic; Molecular Sequence Data; Mutation; Nerve Tissue Proteins; Nervous System Malformations; Nose; Otx Transcription Factors; Phenotype; Trans-Activators
PubMed: 7590242
DOI: 10.1101/gad.9.21.2646 -
Annals of Dentistry 1995
Topics: Abnormalities, Multiple; Adult; Ear, External; Face; Female; Fetal Death; Humans; Male; Mandible; Microstomia; Nose; Orbit; Pregnancy
PubMed: 8572548
DOI: No ID Found -
American Journal of Medical Genetics Oct 1989Otocephaly ("agnathia") is a developmental field complex with structural defects limited to the craniofacial region. Previously, two infants with otocephaly, situs... (Comparative Study)
Comparative Study
Otocephaly ("agnathia") is a developmental field complex with structural defects limited to the craniofacial region. Previously, two infants with otocephaly, situs inversus totalis, renal defects, and vertebral and rib abnormalities were reported by Pauli et al. [Teratology 23:85-93, 1981]. We describe a similarly affected infant male, supporting the existence of this midline malformation association. A generalized disturbance in cell migration from the primitive streak may be its pathogenesis. A search for additional patients among cases of otocephaly may establish its prevalence, patterns of associated anomalies, and cause.
Topics: Facial Bones; Humans; Infant, Newborn; Male; Ribs; Situs Inversus; Skull; Syndrome
PubMed: 2817004
DOI: 10.1002/ajmg.1320340223 -
Journal of the Tennessee Medical... Dec 1988
Topics: Abnormalities, Multiple; Ear, External; Humans; Infant, Newborn; Male; Micrognathism; Ultrasonography
PubMed: 3070176
DOI: No ID Found