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At least 775 records · Page 43Linked to original sources
PubMed1993

Imaging of ear deformities in Treacher Collins syndrome.

Conductive deafness is a common feature of the Treacher Collins syndrome. The bilateral, essentially symmetrical hypoplastic deformities of middle and external ears, are characteristic. Improved imaging of the deformities using high resolution computed tomography (HRCT) has accompanied a present reluctance to explore surgically these middle ears because of poor results and the increasing success of bone anchored hearing aids. We describe the results of HRCT in 13 patients with Treacher Collins syndrome. An unpneumatized mastoid and a greatly reduced attico-antral region are almost constant findings, but a proportion of patients have a patent external auditory meatus, and, only in these is exploratory surgery feasible. Correction of ossicular deformities may be possible. Patients with atresia of the external auditory meatus are not suitable for exploration and need bone anchored hearing aids. Imaging for these children should be limited with regard to radiation dose and sedation.

Adolescent↗
PubMed1992

Hemifacial microsomia and hypodontia: a case report.

A 6-year-old girl with hemifacial microsomia was examined. Abnormalities found were: severely malformed pinna of the right ear, right malar hypoplasia and unilateral mandibular hypoplasia. Dental examination revealed normal intraoral soft tissues with all deciduous teeth present. Radiographic examination disclosed that the maxillary and mandibular right and left second premolars were not developing. The mandibular ramus was short in length and the mandibular condyle had not developed on the right. The patient had no renal, cardiac or skeletal anomalies and her hearing was normal. No previous publications have been located which report the association of hypodontia and hemifacial microsomia.

Anodontia↗
PubMed1979

Frontometaphyseal dysplasia with congenital urinary tract malformations.

A 12-year-old by with unusual face and hearing loss was diagnosed as having frontometaphyseal dysplasia. He also had congenital urinary tract malformations and chronic urinary tract infection. The cranial and facial bones of the patient were studied by roentgen cephalometric analysis.

Abnormalities, Multiple↗
PubMed1996

Exclusion of Treacher Collins Franceschetti syndrome in a subject with tetralogy of Fallot and cryptorchidism.

Genotyping with flanking DNA markers was used to ascertain Treacher Collins Franceschetti syndrome (TCOF1) in a subject affected by tetralogy of Fallot and cryptorchidism. The proband's family consisted of a father and sister who were affected by the disease, and a healthy mother. Since cardiac malformation and cryptorchidism have been associated with the TCOF1 syndrome, the proband was suspected to be a carrier of the mutated gene. Microsatellite markers D5S527, SPARC and D5S519, which previously mapped the TCOF1 gene within a 2.1-cM interval on chromosome 5 (5q32-33.1), were used to follow the transmission of the TCOF1 mutated locus. Flanking markers D5S519 and D5S527 were informative and enabled us to exclude inheritance of a TCOF1 mutation to the proband, while showing that cardiac malformation and crytorchidism were unrelated in this patient.

Abnormalities, Multiple↗
PubMed1995

Orotracheal intubation through the laryngeal mask airway in paediatric patients with Treacher-Collins syndrome.

The laryngeal mask airway (LMA) is useful as an airway intubator (conduit) for an intubating tracheal bougie or fibreoptic bronchoscope, over which a tracheal tube is passed. However, in our paediatric patients with Treacher-Collins syndrome, only the latter technique was successful. This was attributed to the fact that a posteriorly protruded tongue displaced the LMA, made the glottis move considerably anterior and interfered with the attempts to enter the trachea with a bougie. Downward displacement of the epiglottis, which can sometimes impair the intubation technique through the LMA, was not observed in our patients. Partial obstruction of a tracheal tube within the LMA occurred in one of the patients.

Airway Obstruction↗
PubMed2005

Management of the difficult pediatric airway with Shikani Optical Stylet.

The airways of children with many craniofacial and mandibulofacial malformations often present unique challenges to the anesthesiologists. We report the application of Shikani Optical Stylet (SOS) in facilitating the tracheal intubation of four children with history of difficult airway management. The SOS combines the benefits of the lightwand and fiberoptic bronchoscope.

Anesthesia, Inhalation↗
PubMed1984

Dento-alveolar abnormalities in oculomandibulodyscephaly (Hallermann-Streiff syndrome).

Oculomandibulodyscephaly (OMD) is characterized by anomalies of skull, mandible, skin and eyes and also by a proportionate nanism. Dental abnormalities are often observed but poorly defined. Examination of a 2-month-old infant that suffered from OMD, having died from an unrelated cause revealed premature eruption of several deciduous teeth, crowding of unerupted deciduous teeth and agenesis of all permanent teeth excepting the first permanent molars.

Hallermann's Syndrome↗