1/11. Raine dysplasia: a Brazilian case with a mild radiological involvement.We report a preterm male infant, the first child of a young consanguineous couple, whose physical examination revealed craniofacial disproportion with microcephaly, wide fontanelles, exophthalmos, low nasal root and hypoplastic nose, long philtrum, small mouth, high arched and narrow palate, micrognathia, dysplastic, low-set and rounded ears, short neck and, arthrogryposis. Postmortem findings included hypoplastic lungs. Radiological examinations showed mild and localized increased of bone density in the cranial vault and skull base and facial bones and undermodelled in the long bones. The above findings are characteristics of Raine dysplasia but the case reported here presents a mild bone involvement with only a localized bone sclerosis and absence of prenatal fractures. We discuss the possibility that this case represents an allelic mutation of the Raine gene. The consanguinity of the parents reinforces the hypothesis of autosomal recessive inheritance for this entity.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
2/11. arthrogryposis multiplex congenita in a patient with limited mouth opening: a case report.This report describes a case of arthrogryposis multiplex congenita and concomitant bruxism with limited mouth opening and pain in the temporomandibular joints (TMJ). A conservative treatment with a myorelaxing splint and physiotherapeutic exercises was prescribed resulting in improvement to the muscular and joint conditions and a reduction in pain.- - - - - - - - - - ranking = 5keywords = mouth (Clic here for more details about this article) |
3/11. A new arthrogryposis syndrome with facial and limb anomalies.A new familial syndrome of facial and limb anomalies was shown in a 4-month-old girl. Small mouth and jaw with limited jaw movement were seen in infancy, with growth to relatively normal size and movement in adulthood, but with a persistent, deep, horizontal depression just above the chin. Mild short stature and microcephaly as well as large ears with lack of the anthelix were present in family members. Severe flexion contractures of the hands and feet were present and led to subluxation of fingers and club feet in the most severely affect child. Marked variability among family members was seen, but a dominant inheritance seems likely.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
4/11. trismus-pseudocamptodactyly syndrome: a case report.BACKGROUND: Hecht and Beals in 1969 described an autosomal dominant syndrome characterised by severe restriction of mouth opening, camptodactyly, shortness of leg muscles and, as a direct consequence, foot deformities. CASE REPORT: A case of a 4-year-old girl affected by this unusual syndrome is described. The patient underwent bilateral resection of coronoid processes by intraoral approach. An intraoral device was used in the immediate postoperative period in order to maintain mouth opening. Once at home, the patient has had, for six months, phisiokinesic therapy by means of a modified Darcissac device.- - - - - - - - - - ranking = 2keywords = mouth (Clic here for more details about this article) |
5/11. Lethal arthrogryposis with icthyosis: overlap with Neu-Laxova syndrome, restrictive dermopathy and harlequin fetus.We describe a stillborn female with joint contractures, subcutaneous oedema, ectropion, a severely flattened nose, an 'O' shaped open mouth and extensive peeling of skin. The head circumference was normal. She was born at 33 weeks of gestation to consanguineous parents, who had one previous offspring affected with non-immune hydrops fetalis. Pathological, radiological and prenatal findings are reported. The features of the present case are compared with those of Neu-Laxova syndrome, restrictive dermopathy and harlequin fetus.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
6/11. trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): case report and literature review.The trismus-pseudocamptodactyly syndrome (TPS) is a rare condition inherited as an autosomal dominant trait with variable expressivity. Clinically the syndrome is characterized by decreased ability to open the mouth and curvature of the fingers at the level of interphalangic joints while attempting dorsiflexion of the wrist (pseudocamptodactyly). A 6-year-old male patient from guatemala with this syndrome is presented. The surgical treatment consisted of bilateral coronoid amputation to resolve the pseudotrismus. The procedure was successful and the patient achieved normal function.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
7/11. prenatal diagnosis of Freeman-Sheldon syndrome and usefulness of an ultrasound fetal lip width normogram.OBJECTIVES: Freeman-Sheldon syndrome (FSS) is a rare genetic condition with facial and joint abnormalities. Here we report the first case of prenatal diagnosis in a fetus with negative familial history for this syndrome. A chart of the fetal mouth length was generated and its usefulness verified. methods: A cross-sectional study was carried out to derive standard charts for fetal lip lengths. The study population was made up of 371 fetuses between 15 and 38 weeks of gestation examined only once for this purpose. A statistical analysis previously recommended to derive normal ranges in fetal growth charts was employed. RESULTS: A 34-year-old woman was referred at 28 weeks of gestation for polyhydramnios and clubfeet. A detailed scan confirmed those findings and showed joint contractures of hands, a severe microstomia with a 'whistling' mouth, and an H-shaped mark over the chin. FSS was suspected, though there was no family history for this genetic syndrome. After emergency delivery at 32 weeks, the syndrome was confirmed. The infant died two months later from pneumonia. Upon construction of a standard mouth length chart, it was found that the fetal lip width in this case of FSS was well below the 5th centile. CONCLUSION: Here we present a standard chart for fetal lip width. We demonstrated its usefulness in cases with fetal face anomalies. Specific charts are fundamental for an objective assessment of the fetal parameters.- - - - - - - - - - ranking = 3keywords = mouth (Clic here for more details about this article) |
8/11. Mouthstick prosthesis for a patient with arthrogryposis multiplex congenita.An assembly of a mouthstick with a magnetic end and its implements held in a stand has been described. This prosthesis may be applied in the habilitation of any disabled person who needs such a mechanical aid.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
9/11. Orthopaedic aspects of the trismus pseudocamptodactyly syndrome.The trismus pseudocamptodactyly syndrome is a relatively rare condition with autosomal dominant inheritance, characterized by decreased ability to open the mouth (trismus), interphalangeal flexion deformity with wrist extension (pseudocamptodactyly), various foot deformities, and slightly less than normal stature. Five affected individuals from one family are reviewed and the orthopaedic aspects are described. The presence of trismus is emphasized for the orthopaedic surgeon, as it may lead to anaesthetic complications during the treatment of the musculoskeletal problems.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
10/11. Limb pterygium syndromes: a review and report of eleven patients.Conditions with limb pterygia and congenital contractures were reviewed as part of a study of over 350 infants with arthrogryposis. Emphasis was placed on inheritance and variability of distinct pterygium conditions. Eleven patients with limb pterygia were recognized in our study and are described here. Seven of the 350 patients with congenital contractures had the autosomal recessively inherited multiple pterygium syndrome (patients 1-7). Three of the seven are sibs, a fourth was born to consanguineous parents, and three were chance isolated cases. These seven had multiple joint webs, unusual finger contractures, syndactyly, rocker bottom feet, ptosis, antimongoloid slant of palpebral fissures, epicanthal folds, highly arched palate, scoliosis, and short stature. There is intrafamilial variability. Three patients from one family had a lethal multiple pterygium syndrome. Two were monozygotic twins. They had webbing and contractures of the elbows, knees, neck, and fingers, calcaneovalgus deformity of the feet, and an unusual facial appearance: hypertelorism, flat nose, antimongoloid slant of palpebral fissures, apparently low-set ears. One had a cleft palate. Internal malformations included: bilateral pulmonary hypoplasia, small heart, absence of the appendix, and attenuation of the ascending and transverse colon. One sporadic case of lethal popliteal pterygium with facial clefts was studied. Multiple anomalies included: ankyloblepharon filiforme adnatum, upslanting palpebral fissures, hypoplasia of nasal cartilages, frenula, clefts into the oropharynx lateral to the mouth, apparently low-set ears with slit-like canals, large popliteal pterygia, syndactyly with fusion of all digits in hands and feet, and hypoplastic labia.- - - - - - - - - - ranking = 1keywords = mouth (Clic here for more details about this article) |
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