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PubMed1983

The branchial arch syndromes.

Malformation of those structures derived from the first and second branchial arches are frequently accompanied by ocular and adnexal abnormalities. Ophthalmologists should recognize the various syndromes involved so as to ensure appropriate multi-system evaluation of their patients, and the avoidance of potentially life threatening complications. The features of the major branchial arch syndromes are reviewed, and some of the concepts of pathogenesis considered. In particular, those teratogenic influences which might also explain some associated ophthalmic disorders, are discussed.

Abnormalities, Drug-Induced↗
PubMed1983

[Goldenhar syndrome. Oculoauriculovertebral dysplasia. 2 new pediatric cases].

The authors report two new cases of Goldenhar's syndrome, as they are described in Gorlin's scheme of oculo-auriculo-vertebral dysplasia. Therapeutical problems (plastic and orthopedic surgery, ocular prothesis and hearing aid) due to Goldenhar's syndrome are very acutely pointed out in these cases. Generalized convulsions, not yet described in the medical literature, are found in these two cases. These congenital malformations are caused by branchial arches organogenesis anomalies. The authors consider that accurate and early dermatologic diagnosis is important for the correct management of children with oculo-auriculo-dysplasia.

Female↗
PubMed1983

A new fascial flap for use in craniofacial surgery.

A galea fascial flap is described based on the superficial temporal and posterior auricular vessels. This has been used by the author in 14 cases of craniofacial abnormalities including 3 cases of Treacher Collins Syndrome. The galea flap can be used for soft tissue augmentation of the face and also for protection of bone grafts. The technique of raising the galea flap is described in detail and its use in cases of craniofacial defects are illustrated.

Facial Asymmetry↗
PubMed1983

Trisomy 9 mosaicism: another etiology for the manifestations of Goldenhar syndrome.

A term female infant with intrauterine growth retardation and multiple congenital anomalies had trisomy 9 mosaicism in blood and skin fibroblast cultures. Anomalies typical of Goldenhar syndrome included an epibulbar dermoid, auricular malformation, hemifacial microsomia, vertebral anomalies, cardiac defects, pulmonary hypoplasia, renal hypoplasia, and limb defects. This case emphasizes the value of chromosomal evaluation of lateral asymmetry, the heterogenous etiology of Goldenhar syndrome, and the variable phenotypes produced by trisomy of large autosomes.

Chromosomes, Human, 6-12 and X↗
PubMed1984

[Goldenhar syndrome. Discordance in monozygotic twins].

Child here described is a new-born male, the firstborn twin, who showed clinical-radiological manifestations compatible with an oculo-auriculo-vertebral syndrome or Goldenhar's syndrome. A comparison of chromosomes, identification of serological types and determination of antigens of histocompatibility (HLA) showed them to be similar in both twins, thus showing identity of monozygots . Of great importance in the anamnesis is a radiological study--cholecystography--which was practiced between 4th and 6th weeks of pregnancy. Differences shown and possible intervention of radiation as etiology mark the especial interest of this case.

Abnormalities, Radiation-Induced↗
PubMed1984

[Goldenhar syndrome. Report of a new case].

Authors present a patient with Goldenhar's syndrome, with severe cardiac, vascular and brain malformations. Goldenhar's syndrome is a condition characterized by epibulbar dermoids or lipodermoid , malformation auricular, and vertebral anomalies. Many other abnormalities have been described, but these signs are the most constant and give the syndrome its' identity.

Abnormalities, Multiple↗
PubMed1982

[Personal experiences in the surgery of external ear abnormalities. IV. Microtia].

Our methods of the reconstruction of the microtia are mentioned. In microtia of both auricles we first try to reconstruct the structures of middle ear and the external channel. If possible we use a "transposition-rotation flap" and rib cartilage for support. The advantages of pedicled flaps in auricle surgery are described.

Ear, External↗