Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Microstomia”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 127 records · Page 7Linked to original sources
PubMed1998

Oro-palatal dysplasia Bettex-Graf--a new syndrome.

Four cases of an until now undescribed syndrome have been observed in Berne in the last 40 years. All four cases are members of the same family and have occurred in three consecutive generations. They present with a U-shaped palatal cleft, microstomia, hypoplasia of the mandibula and a partial anodontia. An autosomal dominant heredity was demonstrated. Karyograms have been made in three of the patients and in all patients showed an anomaly in the form of a "fragile site" in one chromosome (16 fra 16 [q22]). Surgical and orthopedic treatments were difficult.

Abnormalities, Multiple↗
PubMed1996

Nonlethal case of otocephaly and its implications for treatment.

Otocephaly is a craniofacial syndrome with a constellation of findings consistent with symmetrically deficient development of the first branchial arch. Characteristically, those affected have ventrally displaced ears, microstomia, and an atrophic to absent mandible. Secondary to oropharyngeal incompetence, ventilatory, difficulties typically lead to the imminent death of these infants shortly after birth. Here we present a patient who survived well beyond the perinatal period with the support of pediatric intensivists and advanced technology available for the diagnosis and treatment of such a complex crajniofacial syndrome.

Craniofacial Abnormalities↗
PubMedDate not supplied

Evaluation of a vertical mouth stretching orthosis: two case reports.

Burns around the mouth frequently result in contractures or microstomia. Orthoses used in the past have usually been designed to stretch the mouth horizontally. Finding a comfortable effective way to stretch the mouth vertically proved to be a challenge. A jaw positioner was used for vertical mouth stretching in two case studies and was evaluated for effectiveness of preventing mouth contractures and for comfort, durability, ease of use, adaptability for children, and ease of measuring results. Vertical and horizontal passive range of motion increased with initial use and then was maintained in both patients. The jaw positioner was comfortable and easy to use. This orthosis could be adapted to fit in a child's mouth and was impossible to swallow. Progress was easy to monitor with the numeric scale on the orthosis. Though no single orthosis will be ideal for every oral burn, this jaw positioner is recommended for pediatric and adult patients with extensive circumoral burns who demonstrate fair to good compliance.

Burns↗
PubMed2006

Freeman-Sheldon syndrome: a case report.

BACKGROUND: Freeman-Sheldon Syndrome is a rare craniofacial syndrome that has not been described in the dental literature to date. The main feature of relevance is severe microstomia, which limits access for routine dental care. CASE REPORT: Dental treatment was carried out successfully under local anaesthetic for a young child with Freeman-Sheldon syndrome. A novel coloured compomer material was helpful in the management of the case. CONCLUSION: The importance of early referral of children with rare craniofacial anomalies to Specialist Paediatric Dental services is highlighted.

Child, Preschool↗
PubMed2005

A prosthodontic management alternative for scleroderma patients.

Hardening of the skin around the mouth causes the oral opening to become limited in scleroderma patients. A maximal oral opening that is smaller than the size of a complete denture can make prosthetic treatment challenging. This clinical report presents the prosthodontic management of a total edentulous patient with microstomia induced by scleroderma. Sectional mandibular and maxillary trays and a collapsed mandibular denture were fabricated for the total edentulous patient. With the use of lingual midline hinge, the collapsed denture was successfully and easily inserted and provided adequate function in the patient's mouth. The cast hinge design reduced the overall costs and simplified the laboratory technique.

Adult↗
PubMedDate not supplied

Functional upper airway obstruction in a child with Freeman-Sheldon syndrome.

Freeman-Sheldon syndrome is defined as a combination of microstomia, deep set eyes, small palpebral fissures, arthrogryposis with ulnar deviation of the hand, talipes equinovarus and generalized muscular hypertension. Respiratory and swallowing problems are frequently encountered in these patients due to small orifices of mouth and nose. Obstruction of the upper airway tract resulting in tracheostomy has only been described twice. The described child manifested the typical dysmorphic features of Freeman-Sheldon syndrome and suffered from serious respiratory distress and swallowing difficulties from birth. The boy died at the age of 7 months after accidental decannulation of the tracheostoma during sleep. He did not show anatomical or histopathological abnormalities in the pharyngeal, laryngeal or tracheal regions. We assume that the only explanation of the repeated obstructive episodes is a functional muscular obstruction.

Abnormalities, Multiple↗
PubMed1996

Freeman-Sheldon syndrome (whistling face syndrome) and cranio-vertebral junction malformation producing dysphagia and weight loss.

The whistling face syndrome has been reported, with complications of the respiratory system and feeding problems due to microstomia, since 1938. Dysphagia, however, has not previously been reported as a complication of whistling face syndrome. We report a 13-year-old with the whistling face syndrome and dysphagia of late onset who has the typical whistling face, scoliosis and multiple joint contractures. Dysphagia occurred as a result of compression at the cervicomedullary junction by a cranio-vertebral junction malformation and impingement by the tip of the odontoid process. This child had undergone multiple surgical procedures for cleft palate, clubfeet, contractures of the hip and knee and scoliosis. Halo traction and posterior occipital-cervical decompression and fusion successfully treated the dysphagia.

Adolescent↗
PubMed1997

Freeman-Sheldon syndrome: case management from age 6 to 16 years.

OBJECTIVE: This is the first description of long-term follow-up of a case of Freeman-Sheldon syndrome. Microstomia was treated with a mouth expander for 2 to 3 hours per day before active orthodontic treatment. Separate impressions were necessary in each quadrant of both upper and lower jaws because of limited mouth opening. CONCLUSION: Orthodontic treatment improved the patient's Class II malocclusion, which was accompanied by crowding and a deep bite.

Adolescent↗
PubMed1999

[Syndromes 13. Epidermolysis bullosa].

Epidermolysis Bullosa is characterised by blister formation of skin and mucous membranes. Three major varieties of epidermolysis bullosa (EB) are reviewed including their dental and oral aspects: EB simplex, junctional EB and dystrophic EB. Marked oral involvement of the soft and hard tissues can produce potentially devastating alterations in anatomy and function. Oral debilitation is limited primarily to the recessive dystrophic EB type due to soft tissue scarring following blister formation. Microstomia, ankyloglossia and obliteration of the oral vestibule are typical features of dystrophic EB. In other cases enamel hypoplasia and cementum disorders can be present. Epidermolysis bullosa has considerable impact on oral health and dental care.

Blister↗
PubMed2003

Freeman-Sheldon syndrome: a case report.

Freeman-Sheldon syndrome, also called "whistling-face syndrome," is a very rare genetic condition, occurring both sporadically and by transmission through autosomal dominant or recessive mode, which affects primarily the face and skeleton. Characteristics include microstomia of the mouth, which gives the person a whistling appearance, a flat face, club feet, contracted joint muscles of the fingers and hands, and underdeveloped nose cartilage. This article describes a case of Freeman-Sheldon syndrome in a 10-year-old male. The most apparent deformities are associated with orofacial and skeletal development.

Abnormalities, Multiple↗
PubMed1992

Evaluation of impression tray techniques in microstomic patients.

Three different methods of constructing impression trays for patients suffering from microstomia have been described. When sectional trays with connectors are designed, proper alignment of the sections is necessary for satisfactory results. Flexible trays, or even silicone putty without a tray, can be used for making preliminary impressions in these cases.

Adult↗
PubMed1984

Electrical burns of the mouth in children.

The acceptable state of the art for commissure electric burns of the mouth in children in the past was to advocate conservative treatment, allowing spontaneous healing to be followed by reconstructive procedures. These statements were made because of the difficulty of assessing the degree of initial injury, the loss of valuable normal tissue in early excision and reconstruction, and the minor role played by infection in healing of local electric burns particularly in this anatomic area. Most authors feel that maximum tissue preservation and functional restoration could best be achieved by delay of surgery until the eschar had separated and the scar had softened. Another school of surgeons believe that scarring, distortion, and secondary infection can be circumvented by timely, early surgical intervention. More recently the fabrication and use of a "dynamic microstomia prevention splint" appears to be beneficial in eliminating the need for or decreasing the degree of surgery in children with electric burns of the commissure of the mouth.

Adolescent↗
PubMedDate not supplied

The split orbicularis myomucosal flap for lower lip reconstruction.

OBJECTIVES: To describe the split orbicularis myomucosal flap and to review our center's experience with this technique for large defects of the lower lip. METHODS: All patients presenting to the senior author (Y.D.) for lower lip reconstruction using this flap were reviewed in a retrospective fashion. RESULTS: A total of 14 patients with a minimum follow-up of 6 months (mean, 3.4 years; range, 6 months to 5 years) underwent lower lip reconstruction using the split orbicularis myomucosal flap from May 1999 to May 2004. Twelve of the defects arose as a result of cancer resection (squamous cell carcinoma [n = 8], basal cell carcinoma [n = 3], and melanoma [n = 1]), and 2 arose secondary to trauma. The defect crossed the vermilion in two thirds of the cases, extending for a variable distance onto the cutaneous portion of the lower lip. The defect size varied from 50% to 80% of the transverse dimension of the lower lip (mean, 68%) and involved the commissure in 4 patients. There were no flap failures, facial nerve palsies or paralyses, oral incompetence, or need for scar revision in any of our study population. CONCLUSION: The split orbicularis myomucosal flap is a reliable method of reconstructing significant defects of up to 80% of the lower lip with minimal risks of microstomia or functional impairment.

Adult↗
PubMed1996

New syndrome?: MCA/MR syndrome with multiple circumferential skin creases.

We describe a combination of multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs in a 4.5-year-old male. Craniofacial anomalies included: a high forehead, elongated face, bitemporal sparseness of hair, broad eyebrows, blepharophimosis, bilateral microphthalmia and microcornea, severe optic nerve hypoplasia, epicanthic folds, telecanthus, broad nasal bridge, puffy cheeks, microstomia, cleft palate, enamel hypoplasia, micrognathia, microtia with stenotic ear canals and posteriorly angulated ears. Head circumference was on the 10th centile and a CT scan showed dilated lateral ventricles. Intracranial pressure was not increased. Other abnormalities included: short stature, loose skin, hypotonia, pectus excavatum, inguinal and umbilical hernias, severe scoliosis, hypoplastic scrotum, long fingers and overlapping toes. Echocardiography showed tricuspid regurgitation. Chromosomes were apparently normal. Differentiation from "Michelin tire baby syndrome" and amniotic band sequence is discussed.

Abnormalities, Multiple↗
PubMed1996

Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism.

A newborn male infant born to consanguineous parents was found to have diffuse polymicrogyria associated with an unusual pattern of congenital anomalies including microbrachycephaly, turricephaly, blepharophimosis, microstomia with maxillary retrusion and mandibular prognathism, micropenis with cryptorchidism, camptodactyly and adducted thumbs, and a progeroid appearance. The combination of manifestations in our patient represents a unique form of polymicrogyria with congenital anomalies, probably representing a new syndrome.

Abnormalities, Multiple↗
PubMed1996

Extending the spectrum of distal arthrogryposis.

We describe a mother and son with multiple, non-progressive, congenital contractures, camptodactyly and absent flexion creases, expressionless face, blepharophimosis, microstomia, and short stature. Although these cases share similarities with the autosomal-recessive Schwartz-Jampel and Marden-Walker syndromes, they have a different mode of inheritance and lack myotonia, one of the most characteristic findings of the Schwartz-Jampel syndrome. Our cases most closely resemble those previously reported as distal arthrogryposis type IIb, although in our patients the proximal joints are severely affected and extraocular involvement is absent. Hearing loss is present in one and cleft palate in the other of our patients; these findings were previously described in arthrogryposis syndromes other than type IIb. We suggest extending the spectrum of distal arthrogryposis to include these manifestations, since there appears to be significantly overlap between the different syndromes.

Abnormalities, Multiple↗
PubMed1997

Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome.

We report on an 8-year-old girl with an unbalanced 15;22 translocation and manifestations of DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and other abnormalities. The main manifestations of our patient were feeding difficulties, respiratory infections, short stature, peculiar face with hypertelorism, prominent nose, abnormal ears, microstomia and crowded teeth, short broad neck and shield chest with pectus deformity and widely spaced nipples with abnormal fat distribution, heart defect, scoliosis, asymmetric limb development, abnormal hands and feet, and hyperchromic skin patches. Cytogenetic studies demonstrated a 45,XX,der(15)t(15;22)(p11.2;q11.2), -22 karyotype. Fluorescence in situ hybridization (FISH) studies confirmed loss of the proximal DiGeorge chromosomal region (DGCR). This case adds to the diversity of clinical abnormalities caused by deletions within 22q11.2.

Abnormalities, Multiple↗