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Nihon Sanka Fujinka Gakkai Zasshi Mar 1988
Topics: Abnormalities, Multiple; Adrenal Gland Diseases; Ear; Genitalia; Humans; Infant, Newborn; Male; Mandible
PubMed: 3361194
DOI: No ID Found -
Journal of Craniofacial Genetics and... 1987This report describes a new case of true cyclopia with otocephaly and additional brain malformations (alobar holoprosencephaly). This is a very rare occurrence involving...
This report describes a new case of true cyclopia with otocephaly and additional brain malformations (alobar holoprosencephaly). This is a very rare occurrence involving lack of cleavage of the prosencephalon and disturbed development of the first branchial arch. An inductive defect of the prechordal mesoderm is considered as the cause for this malformation, which is a part of agnathia-holoprosencephaly complex.
Topics: Abnormalities, Multiple; Brain; Ear; Eye; Eye Abnormalities; Face; Humans; Infant, Newborn; Jaw Abnormalities; Male
PubMed: 3114309
DOI: No ID Found -
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 -
Journal of Craniofacial Genetics and... 1985A new recessive lethal mutation in mice that produces the otocephaly defect is described. The mutation, provisionally named oto is located on chromosome 1, within, or...
A new recessive lethal mutation in mice that produces the otocephaly defect is described. The mutation, provisionally named oto is located on chromosome 1, within, or just outside of, a previously existing inversion, In(1)1Rk, and was probably induced by X-irradiation. The penetrance of oto is nearly complete on C57BL strain backgrounds but is reduced to a variable extent on other backgrounds. The previously reported liability to spontaneous otocephaly in the C57BL strains appears to increase the penetrance of oto. Studies of the sequences of developmental changes (conducted primarily by scanning electron microscopy) and of the range of defects indicate that a primary deficiency involving the anterior aspect of the embryonic disc occurs in affected individuals. An hypothesis related to deficiencies in mesodermal populations is presented as the basis for the craniofacial and brain defects observed.
Topics: Animals; Brain; Chromosome Aberrations; Chromosome Disorders; Chromosome Inversion; Craniofacial Dysostosis; Ear; Embryo, Mammalian; Female; Genes, Lethal; Male; Mesoderm; Mice; Mice, Mutant Strains; Rodent Diseases
PubMed: 4019727
DOI: No ID Found -
Teratology Oct 1984This study describes the gross anatomic variations observed in a 32-week male fetus diagnosed as having otocephaly. Special attention was given to the muscular,...
This study describes the gross anatomic variations observed in a 32-week male fetus diagnosed as having otocephaly. Special attention was given to the muscular, peripheral nervous, and vascular systems of the entire body. External features included approximation of the ears on the front of the neck, underdevelopment of the lower jaw, and a small oral cavity. The mandible, maxillae, and zygomatic bones were smaller than normal and appeared shifted in a ventrocaudal direction. The middle ear ossicles were fused and abnormally positioned. The tongue was positioned abnormally and malformed. The muscles of mastication were fused in the midline and formed the floor of the oral cavity. The variations were similar to the spectrum of abnormalities reported in two cases in the literature. Because of this finding, it is possible that the causative events leading to these deviations were similar in the three cases. Possible mechanisms are considered which could lead to the observed malformations seen in these cases. There were also several muscle and nerve anomalies outside of the head region.
Topics: Abnormalities, Multiple; Extremities; Head; Humans; Infant; Male; Muscles; Neck; Peripheral Nerves; Shoulder; Testis
PubMed: 6495221
DOI: 10.1002/tera.1420300202 -
Journal of Medical Genetics Feb 1982
Topics: Abnormalities, Multiple; Chromosomes, Human; Female; Humans; Infant, Newborn; Karyotyping; Placenta Diseases; Pregnancy
PubMed: 7069754
DOI: 10.1136/jmg.19.1.78 -
Archives D'anatomie, D'histologie Et... 19781. By means of radiographies, of microscopic serial sections and of a cardboard geometric reconstruction (magnification 80), an investigation has been made of the more...
1. By means of radiographies, of microscopic serial sections and of a cardboard geometric reconstruction (magnification 80), an investigation has been made of the more complete "anterior" face of cephalothoracopagus rabbit with anchyoty, synoty, otocephaly, prosophthalmy and cebocephaly. 2. All details are organized according to a well precise plan: a. all structures touching the principle plane of symmetry are fused; b. everything which would exist beyond that plane did not develop. 3. The heads of mallei are fused. The nearly normal auditory ossicles build a transversal chain. The bases of stapes are thickened. The centres of ossification of the heads are fused but normal. Each Corpus incudis shows a normal centre of ossification. 4. The outer epithelial rudiments of the tympanic membranes remain separated by a cleft. 5. The derivatives from the first branchial arch are defective, the anterior processes of malleus being fused. The lack of Meckel's cartilages induces cebocephaly, which provokes itself prosophthalmy and otocephaly. 6. There is a clear tendency-even in the deeply altered regions-towards a harmonious symmetry.
Topics: Animals; Eye Abnormalities; Models, Anatomic; Mouth Abnormalities; Rabbits; Twins, Conjoined
PubMed: 115387
DOI: No ID Found -
Journal de Genetique Humaine Nov 1976
Topics: Abnormalities, Severe Teratoid; Humans; Mandible
PubMed: 1025278
DOI: No ID Found -
Toxicology and Applied Pharmacology Feb 1975
Topics: Abnormalities, Drug-Induced; Animals; Birth Weight; Caseins; Cattle; Cerebral Cortex; Ear; Female; Fetal Death; Glutamates; Mice; Mice, Inbred ICR; Pregnancy; Proteins; Serum Albumin, Bovine; Trypan Blue; Valine
PubMed: 1129793
DOI: 10.1016/0041-008x(75)90155-6 -
Canadian Journal of Comparative... May 1964An inherited low-grade otocephaly in a strain of Beagles was studied. All cases were "mild" with partial agnathia a constant feature in the adult animal. One case of...
An inherited low-grade otocephaly in a strain of Beagles was studied. All cases were "mild" with partial agnathia a constant feature in the adult animal. One case of high-grade otocephaly with aprosopus was recorded in an outcrossed animal. Neonatal mortalities in the low-grade type were associated with gross patency of the parietal fontanelle and hydrocephaly. Enlarged lateral ventricles were found in adult dogs, associated with incomplete union of the cranial sutures and occasional membranous-like paietal bone replacement over the patent fontanelle. Partial agnathia was not obvious in the neonate, but became apparent during postnatal skeletal development. The major anatomical differences in the skulls of these dogs were compared with normal Beagles. Malocclusion of the lower mandible and teeth against the upper jaw during development may have resulted in changes in length and width of the upper jaw and certain cranial structures. It was thought that the maloccluding lower jaw acted as a wedge against the upper jaw during mastication and these abnormal pressures, transmitted in an upward, forward, and outward direction, caused lengthening and widening of the palatine and temporal bones, and lengthening of the premaxilla and nasal bones. The nasopharyngeal meatus and palatine fissures were narrower and elongated. The pterygoid processes were pulled into a more horizontal position. It was suggested that a primary inherited abnormality may cause secondary changes in contiguous structures during development, and differentiation between primary (genetic) and secondary (acquired) anatomical abnormalities should be considered.
PubMed: 17649505
DOI: No ID Found