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At least 919 records · Page 51Linked to original sources
PubMed2002

Airway management of the severely retrognathic child: use of the laryngeal mask airway.

Successful airway management of an infant or child with moderate to severe retrognathia first requires recognition of a potential problem. If the child cannot be intubated in a standard fashion, the use of a laryngeal mask airway (LMA) should be considered. We describe two cases wherein a toddler and an infant with severe retrognathia failed multiple attempts at traditional intubation. Both had an anterior larynx and hypoplasia of the mandible. In both cases, a subsequent LMA was successfully placed. The severely retrognathic newborn or child presents to the physician a unique challenge in airway management. Techniques to manage this difficult pediatric airway are different from those used in the adult. Otolaryngologists should be aware of this intubation technique and include it in their armamentarium of airway-management strategies. The LMA is not recommended as the technique of choice for securing a difficult airway, but it is an effective alternative when indicated, and it might be life-saving.

Airway Obstruction↗
PubMed2002

Clinical features, treatment and genetic background of Treacher Collins syndrome.

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development. The major features of the disease include midface hypoplasia, micrognathia, microtia, conductive hearing loss and cleft palate. Current procedures of surgical treatment of TCS are discussed and novel findings concerning the genetic background of TCS are described. The TCS locus has been mapped to chromosome 5q31.3-32. The TCOF1 gene contains 26 exons and encodes a 1411 amino acid protein named treacle. In the TCOF1 gene 51 mutations have been identified. Most of these mutations are insertions or deletions, which result in an introduction of a premature termination codon into the reading frame. Mutational spectra support the hypothesis that TCS results from haploinsufficiency of treacle.

Chromosomes, Human, Pair 5↗
PubMed1975

[Different forms of deafness in Treacher - Collins-Syndrome, shown on a family over three generations (author's transl)].

A Treacher Collins-syndrome has been followed up in a family over 3 generations. We found a change in deafness from grand parents- and parents-generation to the third one. The first two showed an inner ear deafness, the latter the well-known conduction deafness. The phenotype becomes more and more extensive in the following generations. Simultaneous with this development the deafness becomes more typical. In theory the inner ear deafness could either be explained as the final stage of a long standing conductive deafness or it is part of an incomplete developed syndrome.

Abnormalities, Multiple↗
PubMed2003

Ultrasonographic prenatal diagnosis of Treacher Collins syndrome: a case report.

A case of Treacher Collins syndrome (TCS) diagnosed prenatally using ultrasonography is reported. The pregnant woman was gravida 2, para 0. Her husband had stigmata of the syndrome. Ultrasonography revealed polyhydramnios, abnormal fetal ears and marked micrognathia. Abortion occurred spontaneously at 26 weeks of gestation. The abortus bore clinical features of the syndrome.

Abortion, Spontaneous↗
PubMedDate not supplied

Is Far a Hox mutation?

The mouse First arch mutation, Far, causes a severe syndrome of craniofacial defects described previously. All of the known defects are derived from the anterior first arch, and to a very small extent, the dorsal second arch. Recently Far has been shown to be closely linked to Ulnaless on chromosome 2, and therefore in the vicinity of the Hox-4 gene cluster. This paper reports the results of several studies focused on the development origin of the most consistently expressed dominant effect caused by Far, an abnormal major bifurcation of the maxillary nerve. Nerve-stained whole-mount preparations of day 12 embryos showed that in Far mutants the maxillary nerve appears to have a central wedge missing from the normal single-stalked fan shape, and that the nerve defect in Far/Far and +/Far may be equally severe. The effect of retinoic acid on the development of the maxillary nerve was tested. Maternal treatment with 5 mg/kg retinoic acid on day 9 of gestation had no detectable effect on the maxillary nerve of +/Far embryos, and similar treatment with a teratogenic dosage (20 mg/kg) on day 8 or 9 produced no Far-like maxillary nerve defects in genetically normal embryos. The neural crest cells that give rise to nerves and mesenchyme of the first arch originate from specific rhombomeres, discrete segments of the developing head. The rhombomeres of 15 embryos at the 14-23 somite stages, of which 75% are expected to be +/Far or Far/Far, were examined. There was no detectable defect in segmentation or morphology of the rhombomeres compared with controls. The significance of ectopic cartilage in the palate of Far/Far mutants in relation to nerve bifurcation was explored. In histological studies, five out of six Far/Far day-15 fetuses had a rod of ectopic cartilage lateral to the posterior palate, running parallel to, and morphologically similar to, Meckel's cartilage, and lying between the two trunks of the abnormally bifurcated maxillary nerve. None of six +/Far day-15 fetuses examined had detectable ectopic cartilage in this region. We hypothesize that the maxillary nerve defects in Far mutants may be explained by the presence of an ectopic precartilaginous blastema that does not always further develop into detectable cartilage. The ectopic cartilage found in Far/Far resembles the epibranchial cartilage expressed in more posterior branchial arches and in the first arch of lower organisms, and therefore may represent an atavistic posteriorization of the anterior first arch in Far mutants.(ABSTRACT TRUNCATED AT 400 WORDS)

Abnormalities, Multiple↗