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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↗
PubMed1975

4p- phenotype in an infant with t(4p-;19p or q+)mat translocation.

Four family members had an apparently balanced t(4p-;19p or q+) translocation indentified by Giemsa banding. One of these individuals, a male infant, has a 4p- phenotype with seizures, large bilateral cleft palate, abnormal anterior fontanel, abnormally shaped ears, hypertelorism, small penis with third-degree hypospadias, and bilateral simian creases. It is theorized that 4p material containing loci essential for normal development was lost in this infant by a simple deletion or "aneusomy by recombination."

Abnormalities, Multiple↗
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↗
PubMed1978

Glossopharyngeal schwannomas.

Glossopharyngeal schwannomas are rare entities. Our recent experience with three such cases treated successfully, suggests that recognitton of this tumor as a discrete entity is both desirable and feasible. Although this tumor shares with the far more common acoustic schwannoma the presenting symptom of hearing loss, it may be distinguished by an elicitable history of hoarseness, demonstration of abnormal palatal function and absence of expected findings upons standard radiographic examination of the petrous bones and internal auditory canal. We have found that identification of this tumor may be accomplished with currently available diagnostic technics, including computerized tomography. The authors review the literature and report their experiences regarding preoperative assessment, operative technic and the postoperative course.

Adult↗
PubMed1975

Teratogenesis in cats associated with griseofulvin therapy.

Multiple congenital malformations occurred in kittens of three cats treated orally at weekly intervals with 500-1000 mg of the antifungal drug griseofulin. Malformations of the brain included exencephaly, malformed prosencephalon, caudal displacement, and hydrocephalus. Skeletal malformations included cranium bifidium, spina bifida (C1 through C4, and sacral), abnormal atlantooccipital articulation, cleft palate, absence of maxillae, and lack of tail vertebrae. Cyclopia and anophthalmia with absence of optic nerves and rudimentary optic tracts were also observed. Atresia ani, atresia coli, lack of atrioventricular valves in the heart, and absence of external nares and soft palate were other abnormalities present.

Abnormalities, Drug-Induced↗
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↗
PubMed1976

Nasal abnormalities in facial clefts.

After a short review of their development rare clefts of the nose occurring together with facial clefts are described in a number of clinical cases. These may be divided into 6 groups: 1. clefts of the nose; 2. oblique facial clefts; 3. nasal abnormalities in cleft lip and palate cases; 4. nasal abnormalities in median cleft palate cases; 5. aplasia of the premaxilla; 6. syndromes associated with nasal abnormalities and facial clefts. The discussion deals with the literature, aetiology, prognosis and therapeutic aspects. The publication of individual rare cases is suggested.

Adolescent↗
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↗
PubMed1976

A familial tetraphocomelia syndrome involving limb deformities, cleft lip, cleft palate, and associated anomalies--a new syndrome.

This paper reports a rare malformation syndrome which is observed in two sibs (brother and sister) of a family. It consists of nearly symmetric reductive defects of the limbs, flexon contractures of various joints, cleft lip and cleft palate, multiple minor abnormalities including capillary hemangioma of the forehead, hypoplastic cartilages of ears and nose, micrognathia, intrauterine growth retardation, and possibly mental retardation. Chromosomes of both parents and propositi are normal. Genetic data suggest autosomal recessive inheritance.

Abnormalities, Multiple↗
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↗