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Results for “Palate Abnormalities”

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At least 19 recordsLinked to original sources
PubMed1979

The american alligator (Alligator mississipiensis): a new model for investigating developmental mechanisms in normal and abnormal palate formation.

Despite numerous investigations, there are still many unsolved problems concerning normal and abnormal palatal development. The American Alligator is here put forward as a new model for the investigation of a variety of developmental phenomena associated with palatogenesis. The structure of the palate of the adult Alligator is reported. This animal exhibits a unique combination of reptilian and mammalian features in its craniofacial anatomy and so its craniofacial development should be of considerable interest.

Alligators and Crocodiles↗
PubMed2026

Comprehensive analysis of de novo variants across 2,497 orofacial cleft trios reveals novel genetic drivers of disease.

BACKGROUND: Orofacial clefts (OFCs) and other palate abnormalities (PAs) are among the most common birth defects worldwide and are characterized by the abnormal formation of the lip and/or palate. Genetic studies have traditionally classified OFC cases as either syndromic, involving OFCs alongside other congenital anomalies, or nonsyndromic, which represent the majority of cases and occur in isolation. Emerging genomic evidence indicates that genes traditionally associated with syndromic forms of OFC can also harbor variants contributing to isolated cases, challenging the notion of a strict dichotomy between these categories and supporting their integration for gene discovery. METHODS: In this study, we applied multiple analytic approaches to characterize the genetic architecture of OFC and PAs by integrating genomic data from 2,497 trios with probands diagnosed with an OFC (n=2,080) or PA (n=417). We compared these findings across OFC subtypes and syndromic status with those from 5,515 control trios to identify enriched biological pathways and mechanisms and to prioritize candidate genes using variant burden testing. RESULTS: We observed a significant enrichment of de novo protein-truncating and damaging missense variants in cases compared to controls (OR = 2.17, p = 1.21×10-32), with particularly strong signals in biologically relevant gene sets involving OFC-associated, constrained, Mendelian disorder, and mouse candidate genes. Variant burden testing identified 39 OFC risk genes at FDR ≤ 0.05, which we then integrated with 593 established OFC genes to interrogate the functional underpinnings of OFC via network analysis. This analysis revealed 309 high-order interactor genes not previously associated with OFC. Notably, this OFC network clustered into ten distinct biological pathways, with nucleosome-associated genes showing significant enrichment among cases in our cohort (OR = 14.8, p = 8.1×10-4). In a final integrative step, we combined evidence across all analyses to nominate 231 candidate genes, 32 of which contained at least two deleterious de novo variants in our cohort. CONCLUSIONS: These findings underscore the value of integrating diverse OFC and PA subtypes, syndromic status, and variant classes to elucidate the genetic architecture of these disorders, highlighting both phenotypic expansion of known disease genes and the emergence of novel gene-phenotype associations.

De Novo Variant Enrichment↗
PubMed1979

Familial partial trisomy of the long arm of chromosome 3 (3q).

A case of partial trisomy of the long arm of chromosome 3 (3q21 leads to qter) is described. The clinical findings are compared with those in 5 previously reported cases. There is hirsutism and characteristic facial dysmorphism, the common features of which are a square-shaped face, prominent nasal bridge, everted nostrils, hypertelorism, and palate abnormalities; occurring less often are abnormalities of vertebrae, thorax, and digits, or cardiovascular, urinogenital, and central nervous system. New features noted in this present case are absence of right eye from orbit and spina bifida. The spectrum of this syndrome is discussed, with possible relation to the degree of trisomy. The present case is the 6th to be reported with partial trisomy of the long arm of chromosome 3.

Child↗
PubMed1977

Potential for clinical cooperation between dentistry and speech pathology.

Clinical management of articulation dysfunctions is one area in which the joint efforts of dentistry and speech pathology are particularly beneficial. Those articulation deviations discussed result from: (1) deformities in the upper lip, teeth, mandible and the hard and soft palates; (2) introduction of dentures; (3) difficulties in adjusting to esophageal speech; and (4) special problems associated with cleft palate/cleft prepalate. Team management of the individual with cleft palate and/or cleft prepalate was also reviewed. While orthodontists and prosthodontists provide the technology for correct speech production, speech pathologists furnish therapy for cultivating speech or modifying defective articulation patterns. Speech pathologists also serve as liaisons with respect to patients and other professionals. The authors believe that, ideally, clinicians from all disciplines should assume a holistic attitude in treating organic and functional human pathologies. Such interdisciplinary clinical cooperation is especially effective between dentistry and speech pathology. The concept of team management of cleft palate/cleft prepalate is an excellent example of how concomitant treatment effects total patient care. However, joint research and educational ventures also contribute to this objective and should continue to be encouraged.

Cleft Palate↗
PubMed1975

Turner-mongolism polysyndrome. Review of the first eight known cases.

To date, a total of eight cases of the Turner-mongolism polysyndrome have been recognized. The clinical manifestations included retarded growth (resulting in a small and infantile appearance), with shield-like chest, poorly developed breasts, absent body hair, brachycephaly, short neck with foldings and low hairline, oblique eyes with epicanthal folds, squat nose, scrotal or normal tongue, abnormal hard palate (high or cleft), short hands and feet, frequent cubitis valgus, normal clitoris (may be either hypoplastic or peniform), mental retardation, and the XO/G+ karyotype, mosaic for XO in most instances. At this time, a single cause for all cases of the double aneuploidy is not known.

Abnormalities, Multiple↗
PubMed1979

The history of the A family of inbred mice and the biology of its congenital malformations.

The A family of inbred mice which originated in 1921, came during its early development to have incorporated into its genome the tendency to several congenital malformations, among them cleft lip and palate. These sporadic abnormalities are of interest because they closely resemble their human counterparts in morphology and development, and because they share with them a multifactorial basis. The origins and development of the A family are traced, and the abnormalities are described and the forces affecting them detailed.

Animals↗
PubMed1978

Demonstration of actin in the fibroblasts of healing palatal wounds.

The purpose of this study was to gain information which might be helpful in understanding the influence of palate surgery on abnormal maxillary growth. The finding of actin-rich cells in the granulation tissue of palatal wounds supports the hypothesis that one of the functions of those cells is contraction--and the latter subsequently leads to convergence of the wound margins and aberrations in growth of the underlying skeletal tissue. Much additional information is needed for final proof of that hypothesis. At present little is known about the initiation, regulation, or control of the proposed contractile phenomena, or the process of aberrent maxillary growth. Such information will be necessary for further development of clinical techniques that will allow normal maxillofacial growth after surgery on the palate at an early age.

Actins↗
PubMed1979

Distal trisomy 17q.

A 3-year-old, male patient with trisomy 17q231qter due to a paternal t(5;17)(p151;q231) is compared to three other patients reported in the literature who are trisomic for the same segment due to a familial t(17;21)(q23;q22). The features common to the four patients are: profound mental retardation; dwarfism; frontal bossing and temporal retraction; narrow squinty eyes; thin lips with overlapping of the lower lip by the upper lip; very low-set and abnormal ears; cleft palate; and hyperlaxity of the ligaments. It thus seems possible to delineate a new cytogenetic syndrome.

Abnormalities, Multiple↗
PubMed1977

[Applied phoniatry. IV. Rhinophony (author's transl)].

Rhinophony, which is a change of vocal sound, can appear as a major symptom in many peripheral or central disorders of childhood, adolescence and adulthood. Its investigation, aetiology and management from various points of view are discussed. These are considered broadly as rhinophony aperta (palatal paralysis, functional rhinophony aperta, congenitally short palate); as rhinophony clausa (organic in origin, functional nasal speech); and mixed types of rhinophony. Typical phoniatric problems related to cleft lip and palate are also presented.

Auscultation↗
PubMed1978

Cold-induced profuse sweating on back and chest. A new genetic entity?

Two sisters whose parents shared a grandfather had cold-induced sweating. Since childhood they had sweated profusely from the back and chest when exposed to environmental temperatures of 18 degrees to 7 degrees C. They had additional abnormalities--e.g., high palate and inability fully to extend the elbows--which neither their parents nor their sibs shared. The cold-induced sweating, which could not be stopped by a beta-adrenergic blocking agent, was abolished by postganglionic blockade with atropine sulphate. This indicates the possibility of a peripheral mechanism.

Administration, Oral↗
PubMed1979

The cellular effect of 5-bromodeoxyuridine on the mammalian embryo.

It is well known that 5-bromodeoxyuridine (BUdR) when injected into pregnant animals may cause exencephaly, cleft palate, and limb abnormalities. Similarly, it is well established that the drug when added to a culture medium may prevent differentiation of embryonic cell systems without affecting cell division or cell viability. The goal of our experiments was to examine whether the congenital malformations resulting from BUdR treatment were due to lack of differentiation of certain cell lines or were due to other mechanisms. The effects of BUdR on proliferating and differentiating cells in the 12-day mouse embryo were therefore examined and special attention was given to the proliferating cells of the rhombic lip which give rise to the Purkinje cells. When the embryos were treated with BUdR the mitotic index of the neuroepithelium of the rhombic lip doubled in value 3 h after treatment and remained high until 24 h later. By using the colchicine index it was calculated that the mitotic duration in the BUdR-treated embryos lasted at least 2 h and that in the control embryos less than 1 h. When the cell generation time in the BUdR treated animals was calculated the length of the S-phase was increased by about 50%. It was thus concluded that BUdR caused an increase in the duration of the S-phase and mitosis, together making the cell cycle 5 h longer than normal. Eighteen hours after treatment many neuroepithelial cells became degenerative. By radioautography it was demonstrated that the degenerating cells were in their second DNA-synthetic phase following BUdR injection and that cells which incorporated BUdR and were differentiating into neurons were not affected. By injecting [3H]BUdR it was found that many cells which incorporated the analogue were able to leave the proliferative population after their first cell division. They migrated to the periphery where they developed into apparently normal Purkinje cells. The additive effects of cell death and retardation of the cell cycle caused a 15% deficit of Purkinje cells in the postnatal cerebellum but the BUdR did not interfere with their differentiation. Thus, contrary to the BUdR effect on cultures of embryonic cells, in vivo the drug causes cell death and a delay in the cell cycle time. Our experiments therefore seem to indicate that the congenital malformations caused by BUdR in the mammalian embryo are caused by cell death and growth retardation rather than by interference with the process of differentiation.

Abnormalities, Drug-Induced↗
PubMed1977

The Stickler syndrome (hereditary arthro-ophthalmopathy).

Three patients with Stickler syndrome are reported. Two of the patients were found among the 26 children attending a special pre-school for the visually impaired. One of the patients had bilateral choanal atresia which may represent an extreme example of the mid-facial hypoplasia commonly seen in these patients. It appears that Stickler syndrome may not be as rare as previously thought.

Abnormalities, Multiple↗
PubMed1978

Infant with abnormal pigmentation, malformations, and immune deficiency.

An infant had swirling hyperpigmentation, streaks of hypopigmentation, abnormal T-cell function, cleft palate, patent ductus arteriosus, and arrhinencephaly. This pattern of abnormalities is distinct from other disorders with abnormal pigmentation and malformations; such as incontinentia pigmenti, incontinentia pigmenti achromians, and the epidermal nevus syndrome.

Abnormalities, Multiple↗
PubMed1979

Prevention by tiopronin (2-mercaptopropionyl glycine) of methylmercuric chloride-induced teratogenic and fetotoxic effects in mice.

Previous investigations (Fuyuta et al., '76, '79) have shown that a single oral administration of 25 mg/kg methylmercuric chloride (MMC) to pregnant ICR mice on day 10 of pregnancy induced cleft palate in a remarkably high incidence in fetuses. Based on these findings, the present study dealing with the prevention of cleft palate by Tiopronin, (2-mercaptopropionyl glycine, Tp), was initiated. Twenty females in the positive control group were given 25 mg/kg MMC orally on day 10 of pregnancy and then given physiological saline intraperitoneally. Twenty females in the negative control group were given distilled water orally and then given saline intraperitoneally. Cleft palate was found in 98.1% of fetuses in the positive control group and none of them in the negative control group. Twenty females were pretreated with a single oral dose of 25 mg/kg MMC on day 10 of pregnancy and were posttreated with Tp intraperitoneally, immediately and at every 24, 48 and 72 hours after the MMC treatment. The doses of Tp were 320, 160 and 80 mg/kg/day. The incidences of cleft palate in fetuses were reduced to 1.49, 31.3 and 47.8% in the Tp-treated groups with the doses of 320, 160 and 80 mg/kg/day, respectively. Tiopronin could effectively prevent the expected incidence of cleft palate. Other types of abnormalities as well as fetotoxicity represented by reduced fetal body weight were also effectively prevented with the Tp-treatment.

Abnormalities, Drug-Induced↗
PubMed1978

Cutaneous signs of spinal dysraphism. Report of a patient with a tail-like lipoma and review of 200 cases in the literature.

The term "spinal dysraphism" was coined in 1940 by Dr Lichtenstein to designate incomplete fusion or malformations of structures in the dorsal midline of the back, particularly congenital abnormalities of the vertebral column and spinal cord. Raphes develop on the face and head, brancheal arches, sternum, and spinal column. When dysraphism occurs in these sites, failure of closure of fontanelles, cleft lip and palate, brancheal cysts, and abnormalities of the ribs and spine result. A review of 200 cases of occult spinal dysraphism showed the condition to be more common in female patient and to be associated with cutaneous signs in more than 50% of instances. The age at which neurologic symptoms appeared in recorded cases is from birth to 76 years, the average being three years. A case of spinal dysraphism with a tail-like cutaneous structure is presented. The cutaneous manifestations accompanying spinal dysraphism that may lead to early recognition of this syndrome and early institution of treatment are discussed.

Adult↗