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PubMed1980

Teratogenic effects of retinoic acid in pigtail monkeys (Macaca nemestrina). II. Craniofacial features.

The teratogenic effects of retinoic acid, the alcohol-soluble acid form of vitamin A, on the craniofacial complex of 11 macaque (Macaca nemestrina) whose mothers had received the compound from days 20 to 44 are described. The fetuses ranged in gestational age from 81 to 185 days and exhibited features of the so-called retinoic acid syndrome (RAS). The syndrome includes both craniofacial defects and postcranial anomalies of the musculoskeletal and urogenital systems. The craniofacial anomalies were described with reference to gross external appearance and radiographic observations. The most frequent findings were cleft palate, malformed ears, hypertelorism, exophthalmos, hypoplasia of the bone of the mid-face and mandible, a curvature of the inferior border of the mandible, retrognathia, and distortion of the cranium. Lateral cephalograms on nine animals of the RAS sample were measured using six linear dimensions which define the cranial base, face height, palatal length, and mandibular length. The measurements were plotted relative to normal curves which describe growth of the dimensions through the macaque fetal period. For their age, the abnormal animals were small in the craniofacial region. The same measurements were then plotted relative to the size of the fetus, to investigate the possibility of a differential response of the various craniofacial areas to the teratogen. Mandibular length and anterior cranial base were the most reduced dimensions, followed by anterior and posterior face height, with palatal length the least affected. Comparison of the features of the RAS syndrome in the macaque fetus with those reported for various human mandibulofacial dysostosis syndromes yields similarities, but there are enough differences to indicate that the syndromes are not identical in the two species. The utility of the approach used, wherein several craniofacial dimensions of the abnormal are assessed relative to normal growth curves and relative to body size, is emphasized.

Abnormalities, Drug-Induced↗
PubMed1997

Mouse TCOF1 is expressed widely, has motifs conserved in nucleolar phosphoproteins, and maps to chromosome 18.

Mutations in the human TCOF1 gene have been identified in patients with Treacher Collins Syndrome (Mandibulofacial Dysostosis), an autosomal dominant condition affecting the craniofacial region. We report the isolation of the entire mouse Tcof1 coding sequence (3960 bp) by performing a computer-based search for mouse cDNA clones homologous to TCOF1 and generating overlapping RT-PCR products from mouse RNA. Tcof1 is a 1320 amino acid protein of 135 kd with 61.4% identity to TCOF1 and displays repeating motifs enriched for serine- and acidic amino acid-rich regions with potential phosphorylation sites and putative nuclear localization signals. Tcof1 maps to the mouse chromosome 18 region syntenic with human chromosome 5q32-->q33 which contains the TCOF1 locus. Northern blot hybridization indicates Tcof1 expression is ubiquitous in adult tissues and in the embryonic stage, is elevated at 11 dpc when the branchial arches and facial swellings are present in mouse. Our results are consistent with TCOF1 mutations leading to the Treacher Collins syndrome phenotype.

Amino Acid Sequence↗
PubMed1995

Identification and localization of endothelin-1 and its receptors in human fetal jaws.

In the mouse, disruption of the endothelin-1 (ET-1) gene causes severe craniofacial deformities, including mandibular hypoplasia. Since the phenotype of ET-1-deficient mice shows features in common with inherited human mandibulofacial dysostosis, we investigated the presence of ET-1 and its receptors in human fetal craniofacial tissues of 9- to 12-week-old fetuses. We found that ET-1 is immunolocalized in the epithelial cells of the oral cavity. Radioligand binding studies indicate the presence of elevated concentrations of both ETA and ETB receptors in membranes derived from fetal jaws. Using autoradiography, 125I-ET-1 binding sites were shown to be localized within the embryonic mandibular process of the oral cavity, where they were confined to the mesenchymal-derived osteogenic cells. Our data suggest a role for ET-1 in the development of the human mandible.

Abnormalities, Multiple↗
PubMed1992

Induced and genetic mouse middle ear ossicular malformations: a model for human malformative ossicular diseases and a tool for clarifying their normal ontogenesis.

Oral administration of 13-cis retinoic acid (RA) to pregnant mice on the 9th gestation day provokes important malformations of the middle ear ossicles, associated with a general kind of craniofacial dysmorphogenesis evoking the human mandibulofacial dysostosis. The malleus, incus and stapes are affected. The malleus exhibits a handle separated from its head and keeping a persistant relationship with the tubotympanic recess. The stapes makes no contact with the otic capsule. The malformation pattern is visible early as shown by the appearance of an abnormally curved Meckel's cartilage at day 12, followed by the development of atypically shaped ossicular anlagen. The mouse "far" (first arch malformation) mutation is responsible for minor ossicular abnormalities which disrupts the normal relationships between the stapes, Reichert's cartilage and stapedial muscle. The administration of RA to pregnant mice and the comparison with a genetically induced malformation (the mutation far) provides some interesting information about the postulated mechanisms of human middle ear dysmorphogenesis, as well as precious data about the features of normal ossicular primordia formation. The comparison of these features with human middle ear abnormalities as revealed by medical imaging sheds light on human malformation patterns and provides a better understanding of normal and abnormal radiologic ossicular aspects.

Abnormalities, Drug-Induced↗
PubMed2001

[Hemifacial microsomia. Embryological and clinical approach].

Hemifacial microsomia is an otomandibular dysplasia which includes congenital malformations affecting the jaw and ear apparatus. The knowledge of normal embryonic development is a prerequisite for optimal clinical management of those malformations. The development of craniofacial structures is a multi-step process, which involves many developmental events ranging from the migration of neural crest cells from the neural folds of the young neurula embryo to molecular signaling interactions that coordinate outgrowth and patterning of the facial primordia. Our current knowledge of craniofacial development is limited, but the use of animal developmental models will contribute significantly to our understanding of human otomandibular dysplasias. In this review we discuss both the classical and current aspects of otomandibular development. A clinical approach to hemifacial microsomia is proposed. Current pathogenetic hypotheses of hemifacial microsomia and also mandibulofacial dysostosis are reviewed.

Facial Asymmetry↗
PubMed1994

Isolated agenesis of the mastoid antrum.

The first isolated case of agenesis of the mastoid antrum, previously only described in association with the congenital syndromes trisomy 13 and mandibulofacial dysostosis, is reported. The loss of this important surgical landmark may result in disorientation and iatrogenic trauma. The surgeon must be aware of its existence, and where it is suspected the middle fossa dura should be exposed and followed posteriorly until the lateral sinus is encountered.

Aged↗
PubMed2004

The airway in patients with craniofacial abnormalities.

Airway management for patients with craniofacial disorders poses many challenges. The anaesthesiologist must be familiar with the normal bony and soft-tissue anatomy in the airway and how anatomy is altered by various congenital disorders. Specific areas to assess include the oral cavity, anterior mandibular space, maxilla, temporomandibular joint and vertebral column. Congenital conditions that may alter normal anatomy and therefore anaesthetic management include cleft lip and palate with or without Pierre Robin syndrome, craniofacial dysostosis, mandibulofacial dysostosis/Treacher Collins syndrome, hemifacial microsomia, Klippel-Feil syndrome, Beckwith-Wiedemann syndrome, trisomy 21/Down's syndrome, Freeman-Sheldon/whistling face syndrome/craniocarpotarsal dysplasia, fibrodysplasia ossificans progressiva, mucopolysaccharidosis and vascular malformations.

Anesthesia, Inhalation↗
PubMed1990

[Development of genetic research in ophthalmology with special reference to Switzerland].

The relationship between ophthalmology and genetics has always been a very active one, and existed even before Mendel's laws of inheritance were known. The pedigree method in particular yielded satisfactory results even to the first researchers. Later, Helmholtz's invention of the ophthalmoscope (in 1851) and the rediscovery of Mendel's laws of heredity (in 1900) made major contributions to the progress of human genetics in ophthalmology. Credit is due to J. F. Horner of Zurich (1831-1886) for having first established the X-chromosomal inheritance of colorblindness. Subsequently, the development of genetic research was advanced in particular by Alfred Vogt, Professor of Ophthalmology in Zurich (1879-1943) and Adolf Franceschetti in Geneva (1896-1968) and their co-workers. We are indebted to Vogt for the first description of albinismus solum bulbi. Credit is also due to him for having made early diagnosis of myotonic dystrophy (Steinert) possible, a major discovery for genetic counseling. He was the first to detect, by slit-lamp examination, characteristic lens changes in the form of whitish, red, and green opacities in the anterior and posterior subcapsular regions. Franceschetti's achievements include the description of several clinical syndromes, of which mandibulofacial dysostosis has become well known. Among the hereditary retinal dystrophies, he described fundus flavimaculatus (yellowish lesions disseminated in the deeper layers of the posterior pole) as a new entity, attributed to degeneration of the pigment epithelium. In addition to more than 500 articles, he was also co-author, with J. François and J. Babel, of a monumental handbook in two volumes titled Hérédodégénérescences choriorétiniennes (of which an English translation appeared in 1974).(ABSTRACT TRUNCATED AT 250 WORDS)

Eye Diseases↗
PubMed1991

Enzyme histochemical analysis of craniofacial malformations induced by retinoids.

Craniofacial malformations were induced in 256 embryos from 32 pregnant rats by a single intraperitoneal injection of 10 mg/kg etretinate at 8.5 days gestation. The litters developed several malformations including microtia, low set and dorsally placed outer ears, defective middle ear ossicles, short cochleas, defectively differentiated Meckel's cartilages, micrognathia, rudimentary malar bones, lateral facial clefts, fistulas, and skin tags, all of which tissues are derivatives of the first and second branchial arches. The teratogenically induced syndrome shows similarities to the mandibulofacial dysostosis syndrome in man. The defects were accompanied by a change in the histochemical differentiation and location of various enzymes in the craniofacial tissues.

Abnormalities, Drug-Induced↗
PubMed1985

Anophthalmos and first branchial arch defects.

The association of unilateral mandibulofacial dysostosis and anophthalmos at the same side is reported. The proband presented at the age of six months with: right anophthalmos and hypoplasia of the orbit at the same side, hypoplasia of the right mandible and maxilla, right external ear deformity, cyanotic heart disease, hemivertebrae, cataract and corneal opacity in the left eye. This case shows the maximal effect of the abnormal development of the first branchial arch (the mandible, maxilla, and ears) on the globe and the orbit. The other end of the spectrum in which the minimal effect on the globe was present (unilateral absence of choriocapillaris and retinal pigment epithelium inferiorly) was reported by Cotlier & Alghadyan in 1981. This supports the concept that abnormal development of the mandible may influence the development of the orbit and the globe. The extent of the influence of the abnormal developing first branchial arch on the eye is discussed.

Abnormalities, Multiple↗
PubMed2000

[Congenital absence of major salivary glands].

Congenital absence of major salivary glands is infrequent, with only a few cases in the world medical literature. We found 30 documented cases in a bibliographic search. We report a case of total agenesia of the parotid gland diagnosed in the course of a study motivated by symptoms of facial pain and the temporomandibular joint. Agenesia of a major salivary gland (specially the partial ones) usually develops with no manifestation that motivates the patient to seek treatment. Parotid aplasia can be an isolated finding or associated with the absence of other glands or with abnormalities such as aplasia of the lacrimal gland, mandibulofacial dysostosis, and ectodermic dysplasia.

Adult↗
PubMedDate not supplied

Correlation of HSP110 expression with all-trans retinoic acid-induced apoptosis.

In a previous study, we observed the strong expression of a stress protein of the HSP100/Clp family (HSP110) in apoptotic mesectodermal cells during early mouse facial development. In the present study, we describe the strong expression of the same HSP110 in mesectodermal cells undergoing apoptosis after all-trans retinoic acid (RA) administration. We used a teratological model known to increase cell deaths mainly in the first and second branchial arches during mammalian cephalogenesis: the treatment of E9 mouse embryos with all-trans RA, which results in craniofacial malformations comparable to those that characterize mandibulofacial dysostosis in man. Pregnant NMRI mice were treated with 60 mg/kg body weight of all-trans RA, given orally on day 9 of gestation; embryos were taken 4, 12 or 24 hr after RA administration. The apoptotic pattern of RA-induced cell deaths was confirmed using the dUTP biotin nick-end labeling (TUNEL) method and transmission electron microscopy (TEM). HSP110 expression was detected using an immunohistochemical approach. The increase in the number of TUNEL-positive cells and HSP110-positive cells after all-trans RA administration was quantified in the first branchial arch using a computerized method. Twelve hours after RA administration, the increase in the number of HSP110-positive cells is greater than the increase in the number of TUNEL-positive cells. Twenty-four hours after RA administration, only TUNEL-positive cells remain strong in number. We suggest that HSP110 expression could represent a biochemical event of apoptotic cell death induced by RA, associated with early stages of the apoptotic process. In order to find out if HSP110 expression resulted from neosynthesis, we performed in situ hybridization, which demonstrated that the expression of HSP110 occurred at the level of mRNA.

Animals↗
PubMed2003

Case report: orofacial characteristics of Hallermann-Streiff Syndrome.

BACKGROUND: Hallermann in 1948 and Streiff in 1950 described patients characterised by "bird face", congenital cataract, mandibular hypoplasia, and dental abnormalities. The new syndrome was later defined as Hallermann-Streiff Syndrome (HSS), underlining the differences with regard to Franceschetti's mandibulofacial dysostosis. CASE REPORT: Examination of a white male affected by Hallermann-Streiff Syndrome revealed facial characteristics typical of the "bird face" in HSS. The nose appeared thin, sharp and hooked; the prominence of the chin was absent in the lateral view; a marked microstomia was evident as well. Radiographic records showed aplasia of teeth 14, 13, 12, 22, 24, 35, 34, 33, 32, 31, 41, 42, and 43. As for orthodontic diagnosis, the following dentoskeletal features were assessed: skeletal Class II malocclusion, narrow upper arch, bilateral posterior crossbite, and anterior open bite. Lateral cephalogram showed hypoplasia of the mandible, a typical sign of HSS. The mandible revealed a clockwise rotation growth pattern with an opening of the gonial angle, skeletal anterior open bite, and an excessive vertical dimension of the lower third of the face. Radiographs at the age of 13 years showed an anomaly in shape of the lower right first bicuspid, which appeared with a double crown. TREATMENT: Orthodontic treatment started at 10 years of age with rapid maxillary expansion in the early stages of the mixed dentition, in order to correct the posterior crossbite due to the narrow maxillary arch. A subsequent phase of the orthodontic therapy consisted of a functional appliance with the goal of maintaining the transverse dimension of the dental arches and of controlling the tongue thrust in the anterior open bite. Surgical and prosthetic interventions were scheduled at completion of growth to solve the skeletal discrepancy and for occlusal rehabilitation. FOLLOW-UP: The therapeutic protocol used in the patient presented here was able to reach the orthodontic goals during the developmental ages. Further treatment is planned as there are multiple missing permanent teeth and prosthetic/restorative care is needed until the patient reaches full adulthood.

Child↗
PubMed1985

Microtia: a microform of hemifacial microsomia.

An analysis of associated deformities in 74 patients with isolated microtia is reported. Microtia should be considered a microform of hemifacial microsomia because of similar (1) asymmetrical nature of the defects, (2) incidence and pattern of seventh nerve paresis, (3) correlation of the degree of seventh nerve weakness with grade of auricular deformity and not with the severity of mandibular hypoplasia, (4) right-sided preponderance, (5) incidence of associated cleft lip and palate, (6) male predilection, and (7) equivocal mode of inheritance. These clinical observations confirm the concept that microtia and hemifacial microsomia have the same etiopathogenesis which is not shared by mandibulofacial dysostosis.

Abnormalities, Multiple↗
PubMed1995

[Contribution and limitations of experimental models to the understanding of certain abnormalities of the face and ear].

The analysis of 4 craniofacial teratological models in the mouse (13-cis-retinoic acid and methyl triazene administration, irradiation, 'far' strain) permits to study the similarities, but also the differences between these models and malformative syndromes in the human. Retinoic acid administration provides a phenocopy of mandibulofacial dysostosis, and irradiation gives rise to a centrofacial dysplasia evoking several holoprosencephalia and Crouzon syndrome. However, triazene administration does not reproduce the hemicraniofacial microsomia.

Abnormalities, Drug-Induced↗