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PubMedDate not supplied

Treacher Collins syndrome: present concepts of the disorder and their surgical correction.

Treacher Collins Syndrome is a rare bilateral congenital deformity occurring in 1 in 10,000 births. It is also known, in the European literature, as Franceschetti Syndrome, and is additionally known as mandibulofacial dysostosis. It is a syndrome with a very wide spectrum of manifestations characterized by distortions of the orbit secondary to hypoplasia of the maxilla, mandible, and, most markedly, of the zygoma. Soft tissue deformities include lower lid colobomas, laxity and dystopia of the lateral canthus, microtia, and a paucity of the muscular aponeurosis of the midface. The syndrome is frequently accompanied by significant hearing loss, early failure to thrive, chronic respiratory insufficiency, and sleep apnea. Intelligence is usually within normal limits although learning disabilities are common in early life. These major anatomical and physiological abnormalities, as well as the psychological and social stigma associated with severe facial deformity, make this syndrome one of the most challenging reconstructive problems presented to the craniofacial surgeon.

Adult↗
PubMed2006

Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease.

Mutations in the human gene TCOF1 cause a mandibulofacial dysostosis known as Treacher Collins syndrome (TCS). An infant rhesus macaque (Macaca mulatta) that displayed the TCS phenotype was identified at the California National Primate Research Center. The TCOF1 coding region was cloned from a normal rhesus macaque and sequenced. The rhesus macaque homolog of TCOF1 is 91.6% identical in cDNA sequence and 93.8% identical in translated protein sequence compared to human TCOF1. Sequencing of TCOF1 in the TCS-affected rhesus macaque showed no mutations within the coding region or splice sites; however, real-time quantitative PCR showed an 87% reduction of spleen TCOF1 mRNA level in the TCS affected macaque when compared with normal macaque spleen.

Amino Acid Sequence↗
PubMed2006

Treacher Collins Syndrome with choanal atresia: a case report and review of disease features.

Treacher Collins Syndrome--or mandibulofacial dysostosis--is a rare condition that presents several craniofacial deformities of different levels. This is a congenital malformation involving the first and second branchial arches. Incidence is estimated to range between 1-40,000 to 1-70,000 of live births. The disorder is characterized by abnormalities of the auricular pinna, hypoplasia of facial bones, antimongoloid slanting palpebral fissures with coloboma of the lower eyelids and cleft palate. Treacher Collins Syndrome is rarely associated with choanal atresia. A multidisciplinary team, including craniofacial surgeon, ophthalmologist, speech therapist, dental surgeon and otorhinolaryngologist, is the most appropriate setting to manage these patients. This study reports a rare case of Treacher Collins Syndrome with choanal atresia, presenting literature review and multidisciplinary intervention.

Adolescent↗
PubMed2004

Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome.

Treacher Collins syndrome (TCS) or mandibulofacial dysostosis is an autosomal dominant disorder of craniofacial development with 60% of its cases arising de novo. Other modes of inheritance such as autosomal recessive, gonadal mosaicism, and chromosomal rearrangement have also been proposed. This syndrome can result from TCOF1 gene mutations. In this study we identified a TCOF1 1408delAG heterozygous mutation in a patient with the clinical diagnosis of TCS. This same mutation was found in the clinically unaffected mother's leukocytes, hair root bulbs, buccal mucosa, urine, and stool. The mother has a clinically unaffected child and the maternal grandparents do not have the mutation. Because the mother has the mutation in cells derived from all three germ layers, we suspected the mutation was nonpenetrant. However, we could not detect the mutation in her skin fibroblasts, suggesting she is mosaic secondary to cell type specific selection.

Adult↗
PubMed1994

Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome.

The Treacher Collins-Franceschetti syndrome (TCOF) or mandibulofacial dysostosis (MFD) is an autosomal dominant disorder characterized by craniofacial abnormalities and hearing loss. A refined genetic linkage map of the TCOF locus was established in 8 independent families, using 12 microsatellite DNA markers of the distal 5q. Positive lod score values were obtained for all markers with a maximum at the D5S413 locus (Zmax = 3.79 at theta = 0%). Multipoint linkage analysis and haplotype analysis supported the location of the gene between loci D5S434 and D5S412. These results are consistent with previous linkage analyses [Dixon et al.: Am J Hum Genet 49:17-22, 1991, Am J Hum Genet 52:907-914, 1993; Jabs et al.: Genomics 11:193-198, 1991, Genomics 18:7-13, 1993] and provide further evidence of genetic homogeneity in this syndrome.

Chromosomes, Human, Pair 5↗
PubMed2005

Congenital mandibular hypoplasia: analysis and classification.

Mandibular hypoplasia is a frequently encountered craniofacial difference and can be classified into three groups: congenital, developmental, and acquired. The focus of this article is on the congenital group, the majority of which is associated with syndromes. There have been numerous publications on patients with syndromic congenital mandibular hypoplasia; however, there has been no investigation and differentiation of the "nonsyndromic" patients. The purpose of this study was to analyze this subgroup of patients with nonsyndromic congenital mandibular hypoplasia to determine incidence, clinical presentation, and treatment.A retrospective analysis of all children treated for congenital mandibular hypoplasia at the Children's Hospital of Philadelphia between 1975 and 2003 was performed. Two hundred sixty-six patients were identified during this 27-year period. Of these 266 patients, 148 presented with oculo-auriculo-vertebral (OAV) spectrum, 52 with mandibulofacial dysostosis, 31 with Pierre Robin sequence, and 17 with miscellaneous syndromes. The remaining 18 patients were identified as having congenital mandibular hypoplasia without any known syndrome. Of the 18 patients with nonsyndromic congenital mandibular hypoplasia, 17 had primary bilateral growth anomalies and 1 had a primary unilateral growth disturbance resulting in bilateral deformity. Seven patients were products of a complicated pregnancy, 10 patients required tracheotomy or prolonged intubations, and 7 required gastric tube feedings. Associated anomalies included temporomandibular joint ankylosis in five patients, aglossia/microglossia in three patients, and rare craniofacial clefts in three patients. The average number of procedures required to treat the mandibular deformity for each patient was six. Although mandibular hypoplasia is a common craniofacial anomaly, patients manifesting nonsyndromic congenital mandibular hypoplasia are a rare subgroup. Case reports illustrating the range of mandibular deformities are presented.

Ankylosis↗
PubMed1997

TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.

Treacher Collins Syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. Recently, a partial TCOF1 cDNA was identified and shown to contain mutations in TCS families. Here we present the entire exon/intron genomic structure and the complete coding sequence of TCOF1. TCOF1 encodes a low complexity protein of 1,411 amino acids, whose predicted protein structure reveals repeated motifs that mirror the organization of its exons. These motifs are shared with nucleolar trafficking proteins in other species and are predicted to be highly phosphorylated by casein kinase. Consistent with this, the full-length TCOF1 protein sequence also contains putative nuclear and nucleolar localization signals. Throughout the open reading frame, we detected an additional eight mutations in TCS families and several polymorphisms. We postulate that TCS results from defects in a nucleolar trafficking protein that is critically required during human craniofacial development.

Base Sequence↗
PubMed2002

Facial canal anatomy in patients with microtia: evaluation of the temporal bones with thin-section CT.

PURPOSE: To ascertain the location of the facial nerve in patients with microtia by using thin-section computed tomography (CT). MATERIALS AND METHODS: Thin-section CT was performed in 66 ears of patients with microtia (unilateral, n = 12; bilateral, n = 34) and mandibulofacial dysostosis (MFD, n = 20). Findings were compared with those in 22 ears with normal auricles (control group) by using the Dunnett two-sided t test. RESULTS: The facial nerve at the mastoid portion in patients with MFD was 2 mm more lateral and 3 mm more anterior than that in control subjects (P <.01). The same portion in patients with microtia was 3 mm more anterior than that in the control subjects (P <.01). The distance between the facial nerve and the most lateral point of the temporal bone in patients with MFD was 10 mm shorter and that in patients with bilateral microtia was 3 mm shorter than that in the control subjects (P <.01). CONCLUSION: The facial nerve in patients with microtia was not more lateral from the Bill bar (vertical crest) than that in control subjects. The facial nerve in patients with MFD was different from that in patients with microtia who had no other head anomalies.

Case-Control Studies↗
PubMed1997

Rehabilitation in Franceschetti syndrome: an interdisciplinary approach using bone-anchored hearing aids.

The purpose of the study was to determine the effectiveness of a concept of combined interdisciplinary rehabilitation for children with mandibulofacial dysostosis, developed at the Center for Facial Malformations. It consists of binaural implantation of bone-anchored hearing aids and gradual distraction of the mandible. After audiological testing and mandibular distraction on a phantom head designed with data from a spiral CT, the surgery was done in three steps: implanting the fixtures for BAHA and the bone-lengthening device, removing the device after six weeks and completing the BAHA implantation two months later. The distraction procedure and orthodontic treatment were performed on an outpatient basis. The results (six patients, ages 6-19 years) were excellent: after implantation of the BAHA system speech perception increased from approximately 85% with the conventional BCHA to 95-100% with the BAHA. Quality of life was reported to be much better because of the general cosmetic improvement as well as the good acoustic orientation and sound quality with the new hearing devices. We conclude that the interdisciplinary approach provides favorable conditions for rehabilitation in cases of complex malformations of the head and neck.

Abnormalities, Multiple↗
PubMed2006

A soft-tissue approach to midfacial hypoplasia associated with Treacher Collins syndrome.

INTRODUCTION: Treacher Collins syndrome is an autosomal dominant mandibulofacial dysostosis with characteristic hard- and soft-tissue facial abnormalities. These include ocular malformations, ear malformations, and hypoplasia of the facial skeleton, especially of the malar bones and mandible. Traditionally, surgical correction of the facial abnormalities has focused on skeletal reconstruction to restore facial form and symmetry. In this report, we describe the use of customized parascapular free flaps, after standard reconstructive surgeries, for the correction of defects of facial contour in Treacher Collins patients. In most cases, bony reconstruction of the zygoma or periorbita is not required. METHODS: From June 1995 to December 2003, 8 patients with Treacher Collins syndrome underwent microsurgical correction of facial contour using 16 free flaps. In all patients, staged parascapular free flaps were used for reconstruction. The microvascular technique involved a 2-team approach with simultaneous ipsilateral parascapular flap harvest and facial pocket dissection. The flaps were contoured, revascularized (14 superficial temporal vessels, 2 facial vessels), and inset. No vein grafts were used. The patients were followed for a minimum of 1 year, and postoperative evaluation included medical photography, visual assessment, and evaluation by the patient and family. RESULTS: Seven patients had previous facial skeleton correction using craniofacial techniques. The age at operation ranged from 4-19 years. Sixteen parascapular free flaps were used in the 8 patients. Postoperative complications were limited to 1 hematoma. There were no partial or total flap losses. All of the patients had improved facial contour and symmetry. Overlying skin tone and color similarly improved. CONCLUSION: After traditional skeletal reconstruction for the complex craniofacial defects of Treacher Collins syndrome, deficiencies in facial contour and symmetry usually persist. Customized soft-tissue free flaps can be employed to differentially resurface these defects and achieve optimal esthetic results in these challenging patients.

Adolescent↗
PubMed1997

Teratological studies on craniofacial malformations.

Craniofacial malformations cause great human suffering. The purpose of the experimental studies was to investigate teratogenically induced craniofacial malformations in the rat, and to study if vitamin B6 could prevent the teratogenically induced malformations in the rat. The aim of the clinical investigation was to compare mandibulofacial dysostosis (MFD) with hemifacial microsomia (HFM) and thalidomide-induced malformations restricted to the first and second branchial arches. In the experimental studies we used two different teratogenic agents, etretinate and BAPN (beta-aminoproprionitrile). Vitamin B6 was administered one day prior to and simultaneously with the teratogenic agent. The induced malformations were observed by direct microscopy, histology, differential staining, microdissection and enzyme histochemistry. Knowledge of isoenzymic differentiation was obtained by isoelectric focusing and polyacrylamide gel electrophoresis. The clinical features of 29 patients with MFD, 26 with HFM and seven with thalidomide-induced malformations were investigated. The patients underwent clinical investigations, radiography, tomography, computed tomography, surgical exploration and audiograms. The etretinate-induced syndrome in the rat shows similarities to first and second branchial arch syndromes in man. Defective formation of Meckel's cartilage and the cartilaginous skull base, the zygoma and the middle ear ossicles were prominent features of the observed malformations. The induced malformations were accompanied by increased staining for alkaline phosphatase (APase) in the skull and skull base cartilages and Meckel's cartilage. BAPN induced cleft palate in 95% of the cases and the teratogenically induced cleft palate was accompanied by a pathological differentiation pattern that could be traced by determination of isoenzymes in the palatal shelves as well as in amniotic fluid. Vitamin B6 could prevent the teratogenic malformations induced by etretinate and BAPN in the rat. Comparing MFD, HFM and thalidomide-induced malformations, all syndromes included patients with external, middle and inner ear malformations. Cranial nerve palsy/paresis was only seen in HFM and thalidomide-induced malformations. A relationship between disturbed neural crest cell migration and defects of the first and second branchial arches seems possible.

Alkaline Phosphatase↗
PubMed1994

Atypical acrofacial dysostosis syndrome.

We describe a male fetus with a combination of defects, including severe mandibulofacial dysostosis, holoprosencephaly, upper limb deficiency, and microgastria. These abnormalities indicate a severe defect of gastrulation/blastogenesis predominantly affecting cephalad structures. This combination of anomalies has to our knowledge not previously been described. We propose that the anomaly pattern represents either a blastogenesis-related association, or a microgastria-limb deficiency polytopic field defect.

Abnormalities, Multiple↗
PubMed1996

Nager acrofacial dysostosis: management of a difficult airway.

Nager acrofacial dysostosis, first described by Nager and deReynier in 1948, is a rare syndrome characterized by mandibulofacial dysostosis with associated radial defects. The facial features include downward slanting palpebral fissures, absent eyelashes in the medial third of the lower lids, mandibular and malar hypoplasia, dysplastic ears with conductive deafness, and variable degrees of palatal clefting. Upper limb malformation is a constant feature of Nager syndrome and ranges from thumb hypoplasia to absence of the radial ray. The maxillo-mandibular hypoplasia and associated retroplaced tongue set the stage for early and significant upper airway obstruction. The craniofacial anomalies and associated trismus make emergent airway intubation challenging. We present a case of Nager syndrome with life threatening airway obstruction unresponsive to conservative management. This case and a review of the literature emphasize the importance of early tracheotomy for these patients.

Abnormalities, Multiple↗
PubMed1992

Acrofacial dysostosis syndrome type Rodriguez: a new lethal MCA syndrome.

We present a female fetus with the lethal acrofacial dysostosis syndrome recently delineated by Rodriguez et al. [1990]. The present findings confirm that this syndrome constitutes a true MCA syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, the urogenital tract, heart, and lungs.

Abnormalities, Multiple↗