Goldenhar's syndrome: discordance in monozygotic twins and unusual anomalies.
Explore the source record for details and available documents.
SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
Explore the source record for details and available documents.
A 2200 g male infant was found to have esophageal atresia and esophageal fistula in addition to truncus arteriosus and oculo-auriculo-vertebral dysplasia. The presence of facial asymmetry in an infant with esophageal atresia should prompt a search for additional anomalies before surgery is contemplated.
BACKGROUND: The osseointegration concept has dramatically changed the possibility of rehabilitating patients with craniofacial defects due to branchial arch syndromes. PURPOSE: This article describes some problems related to the investigative routines and rehabilitation of individuals with malformations of the first and second branchial arches of the craniofacial region. Animal model systems have increased the knowledge of basic embryonic processes that can explain the extent of the malformations. Though most clinical first and second branchial arch syndromes are likely to be caused by sporadic mutations, inherited syndromes occur and also teratogenically induced syndromes are known. Prenatal diagnosis ruling out heredity and exogenous influence seems possible in the future. The possibility of preventing and alleviating fulminant syndromes prenatally also could be conceivable in the future. PATIENTS AND METHODS: The rehabilitation process starts early after birth and should involve a team of specialists including clinical geneticists, pediatricians, audiologists, plastic surgeons, maxillofacial surgeons, otosurgeons, anaplastologists, speech pathologists, pedodontists, and orthodontists. With the development of the osseointegration concept in which craniofacial prostheses and hearing aids can be adapted on implants anchored in the craniofacial skeleton, a new field in the rehabilitation of these malformations has opened. RESULTS: Important aspects in the use of the osseointegration concept include determination of the lowest age for implant surgery, accessibility of adequate bone for implants, the growth of the craniofacial skeleton during childhood, and the possibility for the patient and his or her parents to care for the skin penetration. Adverse tissue reactions, durability of craniofacial prostheses, and the possibility of unknown adverse reactions to metal implants in the body over a long time are other aspects of concern. CONCLUSIONS: Patients with branchial arch syndromes benefit from a well-planned multidisciplinary rehabilitation process in which osseointegrated bone-anchored hearing aids and bone-anchored ear prostheses can be useful tools.
There is a lack of data on the oral health status of individuals with craniofacial syndromes. A group of 15 children with Treacher Collins syndrome, aged 5 to 15 years old, was examined and evaluated for plaque, caries and gingival problems. The ability of the patients to clean their teeth was also investigated. A high plaque index and poor efficacy of tooth-brushing was recorded. The caries and gingival indexes were not proportionally as high as the plaque accumulation. There was no association between the gingival index and presence of mouth breathing. There was predominance of the D component in both the dmft and DMFT indexes; this was associated with a need for restorative dental treatment in 60% of the patients, which indicated the need for dental care for these patients. Caretakers should be informed of the importance of oral health and oral hygiene and encouraged to take responsibility for the oral care of the children living at home.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
The ocular findings and visual prognosis were reviewed in 24 patients with the Treacher-Collins syndrome who were evaluated in the craniofacial clinic in the Division of Pediatric Ophthalmology at Children's Hospital of Philadelphia between 1980 and 1991. All patients had some abnormality. Vision loss was present in 37% of patients. Amblyopia was present in 33%, significant refractive errors were present in 58%, and anisometropia was documented in 17%. Strabismus was present in 37% and significant lid and adnexal abnormalities were seen in 96%. The prognosis for normal vision in at least one eye is good but vision loss secondary to amblyopia is more resistant to treatment owing to other medical problems and social concerns.
Explore the source record for details and available documents.