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At least 1,315 records · Page 73Linked to original sources
PubMed1993

Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1.

Treacher Collins syndrome (TCOF1) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. The TCOF1 locus has been localized to chromosome 5q32-33.2. In the present study we have used the combined techniques of genetic linkage analysis and fluorescence in situ hybridization (FISH) to more accurately define the TCOF1 critical region. Cosmids IG90 and SPARC, which map to distal 5q, encompass two and one hypervariable microsatellite markers, respectively. The heterozygosity values of these three markers range from .72 to .81. Twenty-two unrelated TCOF1 families have been analyzed for linkage to these markers. There is strong evidence demonstrating linkage to all three markers, the strongest support for positive linkage being provided by haplotyping those markers at the locus encompassed by the cosmid IG90 (Zmax = 19.65; theta = .010). FISH to metaphase chromosomes and interphase nuclei established that IG90 lies centromeric to SPARC. This information combined with the data generated by genetic linkage analysis demonstrated that the TCOF1 locus is closely flanked proximally by IG90 and distally by SPARC.

Base Sequence↗
PubMed1977

The Goldenhar syndrome: a natural history.

Twenty-four patients with the 1st branchial arch (Goldenhar) syndrome have been ascertained ranging in age from newborn to 58 years. In infancy, the ocular, auricular, and palatal problems appear most prominent. In childhood, the correction of, or compensation for, hearing deficit assumes greater importance. Incoordination of deglutition, achalasia of the esophagus, hiatus hernia, and mobile cecum (hitherto unreported features) are characteristically troublesome in infancy and early childhood. Cosmetic problems though significant throughout, engender particular concern during adolescence and early adulthood. Spinal problems with early vertebral degenerative changes cause clinical difficulty requiring surgery during adulthood. Fertility appeared to be unimpaired and longevity is probably unaffected (although our oldest patient is less than 60 years old). Only three cases were mentally subnormal and none died following ascertainment.

Abnormalities, Multiple↗
PubMed1996

The Birmingham bone anchored hearing aid programme: paediatric experience and results.

Over a five-year period, 34 patients have been referred to the Birmingham bone anchored hearing aid programme, paediatric section, of who 21 are now wearing the bone anchored hearing aid (BAHA) and four are awaiting surgery for fitting of the BAHA. Of the patients assessed, found to be suitable and who proceeded to surgery for the BAHA, 44 per cent had Treacher Collins syndrome, 28 per cent had bilateral atresia or microtia, 16 per cent had Goldenhaar's syndrome, four per cent (one patient) had branchio-otorenal syndrome and eight per cent had chronic suppurative otitis media. This paper presents objective and subjective data collected from these patients. It is shown that the BAHA is a very effective hearing aid for children with congenital hearing loss.

Adolescent↗
PubMed1996

Speech and voice rehabilitation in selected patients fitted with a bone anchored hearing aid (BAHA).

With the Birmingham osseointegrated implant programme there have been several patients with severe pre-lingual conductive hearing loss. The majority of these have been patients with Treacher Collins syndrome. There are characteristic features of speech and voice in those with long-standing conductive hearing loss. In addition, the associated abnormalities of jaw, teeth and palate may amplify the problem. There may be spontaneous improvement in features such as voice pitch, quality and intensity following the fitting of a BAHA. However, in those with a pre-lingual hearing impairment, speech therapy may be necessary. Patients assessed as suitable for BAHA have a full assessment of communication skills including audio recording of speech and voice. Post-operative training improves auditory discrimination and perception and is followed by training in the production of the newly perceived speech sounds.

Adolescent↗
PubMed1995

Treacher Collins syndrome: early surgical treatment of orbitomalar malformations.

In the past various materials have been used for the correction of the malar bone defect, such as cartilage, dermis fat, silicone, autograft, homograft, xenograft, and free bone transplantation. The disadvantages of inorganic implants are well known: dislocation, extrusion, and capsular contraction. The bony autograft has no growth potential, and children may need several complementary corrections. None of these procedures is totally satisfactory. To solve these problems malar reconstruction is performed with the help of a temporal bone flap. Two varieties of these flaps have been described: one anteriorly with a muscular pedicle vascularized by the deep temporal artery and one posteriorly with a galeal pedicle vascularized by the superficial temporal artery. The main advantage of an osteomuscular flap is the survival of bone once it has been transferred. The second advantage is related to the osteogenic potential of the cambium layer of the periosteum, which may prove to be an ongoing concern. Our series of patients includes 20 children. Correction of the eyelid coloboma was obtained by transposition and advancement of a superior palpebral flap.

Adolescent↗
PubMed1997

The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. The TCS locus has been mapped to human chromosome 5q31.3-32 and the mutated gene identified. In the current investigation, 25 previously undescribed mutations, which are spread throughout the gene, are presented. This brings the total reported to date to 35, which represents a detection rate of 60%. Of the mutations that have been reported to date, all but one result in the introduction of a premature-termination codon into the predicted protein, treacle. Moreover, the mutations are largely family specific, although a common 5 bp deletion in exon 24 (seven different families) and a recurrent splicing mutation in intron 3 (two different families) have been identified. This mutational spectrum supports the hypothesis that TCS results from haploinsufficiency.

Chromosomes, Human, Pair 5↗
PubMed1977

Effects of excess vitamin A on the cranial neural crest in the chick embryo.

Experiments on fertile hens' eggs have shown that an excess of vitamin A has a highly specific effect on the migration of cranial neural crest cells in the early stages of chick embryogenesis. Migration is disrupted and retarded. This is consistent with the causal mechanism proposed by Poswillo for the Treacher Collins syndrome.

Animals↗