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At least 577 records · Page 32Linked to original sources
PubMed1993

Difficult laryngoscopy made easy with a "BURP".

Displacement of the larynx by backward, upward and rightward pressure on the thyroid cartilage or "BURP" may improve visualization of the glottis in some cases of difficult direct laryngoscopy. In a patient with the Treacher-Collins syndrome in whom conventional laryngoscopy had proved impossible and tracheal intubation extremely difficult, this manoeuvre exposed the entire glottis and made tracheal intubation under direct vision easy. In a patient with protruding upper incisors and a prominent premaxilla which precluded a view of the glottis by conventional laryngoscopy, "BURP" again revealed the glottic opening and simplified the placement of an endotracheal tube. This experience suggests that "BURP" be considered as a potential aid in the management of difficult direct laryngoscopy.

Adult↗
PubMed1997

Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome.

Ptx1 belongs to an expanding family of bicoid-related vertebrate homeobox genes. These genes, like their Drosophila homolog, seem to play a role in the development of anterior structures and, in particular, the brain and facies. We report the chromosomal localization of mouse Ptx1, and the cloning, sequencing, and chromosomal localization of the human homolog PTX1. The putative encoded proteins share 100% homology in the homeodomain and are 88% and 97% conserved in the N- and C-termini respectively. Intron/exon boundaries are also conserved. Murine Ptx1 was localized, by interspecific backcrossing, to Chr 13 within 2.6 cM of Caml. The gene resides centrally on Chromosome (Chr) 13 in a region syntenic with human Chr 5q. Subsequent analysis by fluorescent in situ hybridization places the human gene, PTX1, on 5q31, a region associated with Treacher Collins Franceschetti Syndrome. Taken together with the craniofacial expression pattern of Ptx1 during early development, the localization of the gene in this chromosomal area is consistent with an involvement in Treacher Collins Franceschetti Syndrome.

Amino Acid Sequence↗
PubMed1998

[Nager syndrome].

In this publication, Nager syndrome was analyzed in the literature and six patients from our clinic were evaluated in relation to symptoms, etiology and pathogenesis. The diseases to be considered when making a differential diagnosis are pointed out. Clarification of the etiology is still pending. Molecular genetic research in these patients is possibly the key for new findings. A case report illustrates the results of interdisciplinary treatment by the surgeon and orthodontist. Possibilities and problems in relation to therapy are demonstrated.

Abnormalities, Multiple↗
PubMed1998

[Experiences with distraction osteogenesis in therapy of severe peripheral airway obstruction in infancy and early childhood].

Children with craniofacial malformations are at special risk for the development of peripheral airway obstruction. The problems are magnified in patients with retroposition or hypoplasia of the mandible. In these cases, the base of the tongue is posteriorly displaced, hereby decreasing the airway diameter. By application of distraction osteogenesis the mandible can be lengthened to move the base of the tongue forward and open the airway. Three female patients aged between 7, 11, and 15 months suffering from peripheral airway obstruction caused by mandibular hypoplasia were treated by gradual distraction. All of them had a gastrostomy or a nasogastral tube in place, respectively, due to severe nutrition problems. In the youngest patient tracheostomy was performed shortly after birth and was already planned in the 15-month-old child, who had received a permanent nasopharyngeal tube. The 11-month-old child suffered from severe refractory sleep apnea. Exercises in oral feeding were possible in the youngest patient after 10 days of distraction. In the oldest one, the airway tube was removed on the six day of distraction and, thus, tracheotomy was successfully avoided. In the 11-month-old child apneic events a rapidly decreased. Our experience suggests that distraction osteogenesis after careful preoperative evaluation can be successfully performed for the treatment of peripheral airway obstruction in patients with selected craniofacial anomalies.

Airway Obstruction↗
PubMed2000

[Distraction osteogenesis of the mandible in craniofacial abnormalities].

In recent years, lengthening the human mandible by distraction osteogenesis has become an accepted treatment to correct severe mandibular hypoplasia. Using intraoral unidirectional and extraoral bidirectional distraction devices we report about our experiences and results in the application of the bone distraction technique in four selected cases of syndromal disease, including various forms of mandibular hypoplastic malformations. The patients involved were a boy with Pierre Robin syndrome, a girl with unilateral facial hypoplasia in Goldenhar's syndrome, a case with Nager's syndrome, and a rare case of midline deficiency caused by partial deletion of chromosome 18 (18p-syndrome). The distraction period lasted from 6 to 30 days and new bone formation, ranging from 6 to 28 mm, was achieved.

Adolescent↗
PubMed1985

Ocular findings in the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome).

We reviewed the ocular findings in 57 consecutive patients with the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome). Epibulbar choristomas were detected in 18 cases (32%), a much lower occurrence than reported previously. Various motility disorders (11 cases, 19%), blepharoptosis or narrow palpebral fissures (seven cases, 12%), eyelid colobomas (six cases, 11%), and lacrimal drainage system anomalies (six cases, 11%) were more frequent than previously noted. These ocular findings were more common in the patients with epibulbar choristomas. Of the various features of the Goldenhar-Gorlin syndrome (skin tags, microtia, hemifacial microsomia, and vertebral anomalies), only skin tags correlated positively with the laterality of epibulbar choristomas. Preauricular and facial tags represent choristomas, explaining their association with epibulbar choristomas and the laterality they share.

Abnormalities, Multiple↗
PubMed1977

Biostereometric analysis of surgically corrected abnormal faces.

Biostereometrics is an accurate anthropometric system for quantifying geometric changes of facial form and the relationship of features as they are influenced by growth and by surgery. Facial features distant from the site of surgical intervention are influenced in their geometric relationship to each other by changes in the soft-tissue drape brought about by manipulation of skeletal tissues. The most accurate coordinate system should be elsewhere than on the surface of the face, but if this is not possible it should be in an area farthest removed from the surgical site. This investigation demonstrates that a usable coordinate transformation system can be created by connecting points supernasale and subnasale for establishing the Y Z plane and the construction of the X Z plane at subnasale. Accurate comparative numerical measurements can be made by using soft-tissue landmarks.

Acrocephalosyndactylia↗
PubMed1987

Psychosocial adjustment of 20 patients with Treacher Collins syndrome before and after reconstructive surgery.

Eight males and 12 females (mean age, 12.2 years) with Treacher Collins syndrome were studied longitudinally before and after craniofacial reconstruction. The patients and the parents of the 16 patients who were children were interviewed by a psychosocial team (child psychiatrist, psychologist and social worker) 6 months before and 1, 2, 3 and 4 years after surgery. The patients' facial appearance (Hay's Rating Scale), intellectual ability (Wechsler scales), self-esteem (Piers-Harris Self-Concept Scale for Children) and adaptive functioning (DSM III) were measured. The findings indicate that while their intellectual ability was unchanged, their appearance, self-esteem and adaptive functioning improved, peaking 1 year postoperatively and levelling off at the 2- and 4-year postoperative assessments. The improvement in the patients' facial appearance seems to have a direct, positive influence, creating psychosocial and social benefits for them.

Adaptation, Psychological↗
PubMedDate not supplied

Pneumosinus dilatans as the aetiology of progressive bilateral blindness.

Pneumosinus Dilatans is a rare condition of the craniofacial skeleton which was diagnosed in an adolescent male who presented with progressive bilateral blindness and many features of osteodysplasty (Melnick-Needles Syndrome). The clinical course and unusual pathology of this case which included the compression of both optic nerves within long tubes of bone are described, together with the surgical intervention performed to arrest the patient's loss of vision.

Adolescent↗
PubMed1994

Correction of facial deformities with pericranial and osteopericranial flaps.

Pericranial or osteopericranial flaps pedicled on the superficial temporal vessels were used in the correction of various facial deformities in 16 patients. In 5 patients orthognathic surgery was also performed. In all patients a significant aesthetic improvement was achieved. In order to achieve a satisfactory tissue volume and thickness it was necessary to create a folded pericranial flap. It is possible, as a one stage procedure, to combine osteopericranial with pericranial flaps to correct severe facial deformities. It is concluded that by using this method alone or in combination with orthognathic surgery, when indicated, it is possible to achieve good long term aesthetic and functional results.

Facial Asymmetry↗
PubMed1985

Goldenhar's syndrome: a case study.

Goldenhar's Syndrome, a rare symptom complex involving craniofacial and vertebral malformations, is reviewed and a detailed case history of a 19-mo-old exhibiting the syndrome is described. This multiple-problem child exhibited a 6-mo deficit in communication skills at 12 mo of age. After 6 mo of participation in a multidisciplinary early intervention program, including speech-language therapy, the child exhibits normal language although he has articulation problems consistent with his craniofacial defects.

Goldenhar Syndrome↗
PubMed1984

The Goldenhar syndrome: diagnosis and early surgical management.

The diagnosis, classification, pathogenesis, and surgical treatment of a child with Goldenhar syndrome is reviewed. Our experience with early costochondral growth center transplantation to the temporomandibular joint and ramus is discussed.

Bone Transplantation↗