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At least 811 records · Page 45Linked to original sources
PubMed1985

Tracheo-oesophageal anomalies in the Goldenhar anomalad.

A case of the Goldenhar anomalad is presented with a previously undescribed association with oesophageal atresia and tracheo-oesophageal fistula. This is the second instance of a tracheobronchial-oesophageal communication being found in association with the anomalad. Awareness of this combination may facilitate future diagnosis and treatment of the anomaly.

Esophageal Atresia↗
PubMed1987

Goldenhar syndrome and overlapping dysplasias, in vitro fertilisation and ovopathy.

In contrast to the opinion of Yovich et al, who documented Goldenhar syndrome in one of possibly monozygous twin brothers conceived by in vitro fertilisation and embryo transfer, I suggest that ovopathy is the cause of this anomaly. The eight criteria which have to be met before a condition can be said to be caused by overripeness ovopathy are shown to be satisfied. My conclusion remains that, in general, sporadically occurring Goldenhar variants, as distinct from familial cases, should be considered to be just casualities in the broad 'continuum of reproductive wastage' seen in high risk conceptions, one of which is IVF. This concept increases our understanding of human variation not satisfactorily explained by Mendelian inheritance.

Chromosome Aberrations↗
PubMed1996

The epidemiology of anotia and microtia.

We studied a large data set from three registries of congenital malformations (central-east France, Sweden, and California), a total of 954 cases, known chromosome anomalies excluded. The prevalence at birth varied significantly between programmes, probably to a large extent because of different ascertainment and inclusion criteria, from 0.76 per 10,000 births in the French programme to 2.35 in the Swedish. Within the California programme, there is a racial variability in prevalence with lower values among whites (and probably blacks) than in Hispanics and Asians. Also the proportion of anotia and microtia varies between races with the lowest proportion of anotia in whites. Anotia and microtia are equally often associated with other malformations and show other similar epidemiological characteristics. In unilateral cases, the right side is more frequently malformed than the left side, especially when the ear malformation is isolated. There is a male excess, most pronounced in isolated forms. Among associated malformations, facial clefts and cardiac defects are the most common ones (each about 30% of infants with associated malformations), followed by anophthalmia or microphthalmia (14%), limb reduction defects or severe renal malformations (11%), and holoprosencephaly (7%). There is a maternal parity effect seen, an increased risk at parity 4+ (standardised for maternal age), more pronounced for anotia than microtia.

Abnormalities, Multiple↗
PubMed1996

Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging.

Treacher Collins syndrome is an autosomal dominant disorder of facial development, the features of which include conductive hearing loss and cleft palate. In the current investigation, linkage analysis has been used to make first trimester diagnostic predictions in a pregnancy at high risk of producing an affected child. The results of this analysis predicted that the child would be affected. As predictions of the severity of the disease were not possible, the pregnancy was also assessed by ultrasound imaging. This confirmed the affected diagnosis and predicted that the child would be severely affected.

Chromosome Aberrations↗
PubMed1975

Congenital trigeminal neuropathy in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome).

A 2 1/2 year old child with clinical features of Goldenhar-Gorlin syndrome showed diminished pinprick sensation over the right half of the face. After surgery for the cleft lip, the child died. Neuropathological investigations showed agenesis of the right trigeminal nerve and hypoplasia of the right trigeminal brain-stem nuclei. Nosological aspects of the Goldenhar-Gorlin syndrome and previously reported cases of congenital trigeminal anaesthesia in this disorder are discussed. It is suggested that the hypoplasia of the trigeminal nerve is responsible for the diminished facial sensation seen in some patients with this craniofacial syndrome.

Abnormalities, Multiple↗
PubMed1977

Osteodysplastia (Melnick-Needles syndrome). Radiological quiz.

Postmortem examination of a child with osteodysplastia (Melnick-Needles syndrome) showed peculiar fibro-osseous tissue in the marrow cavity, with areas of bone constriction but no abnormality of endochondral ossification. Pectus excavatum and scalloping of the vertebral bodies were also present.

Bone and Bones↗
PubMed2002

Hearing loss in the Treacher-Collins syndrome.

About 50% of patients with the TCS have conductive hearing loss, caused by characteristic major and/or minor ear anomalies. It is also common for these patients to have microtia or severe malformation of the pinna. The results of [figure: see text] reconstructive surgery to improve hearing are usually moderate to poor, because of combinations of anomalies. In general, it is recommended to start hearing rehabilitation at the earliest possible stage. Owing to the above-described anomalies, rehabilitation usually involves fitting a BAHA, whether or not in combination with a pinna epithesis.

Ear, External↗
PubMed2006

Round window stimulation with an implantable hearing aid (Soundbridge) combined with autogenous reconstruction of the auricle - a new approach.

BACKGROUND: Congenital malformations of the auricle are often combined with atresia of the outer ear canal and malformations of the ossicles, representing aesthetic as well as functional deficits. Optimal treatment should therefore address both aspects equally. This report describes a new approach, combining the reconstruction of the auricle with implantation of an active middle ear hearing aid, stimulating the round window membrane. METHOD: A 33-year-old male patient, with bilateral ear microtia, fibrous atresia of the external ear canals and malformation of the ossicles due to Treacher Collins-Franceschetti syndrome was included in the study. In stage one, the cartilage framework of the new auricle, made of autogenous rib cartilage, was fabricated and implanted. During stage two, the auricle was elevated, a retro-auricular sulcus was formed and a Vibrant MED-EL Soundbridge device was implanted. The transducer was coupled to the round window membrane. RESULTS: Both functional and aesthetical results were favourable. Aided thresholds were between 15 and 30 dB in the frequency range of 0.75-6 kHz, monosyllabic word understanding at 65 dB SPL increased from 0 to 80%. DISCUSSION: Combining aesthetic and functional rehabilitation, autogenous reconstruction of a new auricle together with the implantation of an active middle ear hearing aid, coupled to the round window membrane, is a promising new approach.

Adult↗
PubMed1984

Intracranial lipomas, hydrocephalus and other CNS anomalies in oculoauriculo-vertebral dysplasia (Goldenhar-Gorlin syndrome).

13 cases of Goldenhar-Gorlin syndrome are presented in which numerous central nervous system anomalies have been found. These include occipital encephalocele, hydrocephalus, aqueductal stenosis, agenesis of corpus callosum, multiple congenital lipomas and many others. Pertinent literature has been reviewed. It is concluded that any part of the central nervous system can be involved in this condition and that careful evaluation is indicated in order to rule out a treatable intracranial anomaly.

Adolescent↗
PubMed1980

Hallermann-Streiff syndrome.

Only 2 cases of Hallermann-Streiff syndrome were reported in the past in the dermatological literature. We describe a 20-year-old female patient whose clinical findings mostly fall into this syndrome, except for the presence of slightly low-set ears. The mother of this patient suffered from rubella and took drugs in her 3rd month of pregnancy. This might have been related to the development of the abnormalities of this patient. Chromosomal analysis was normal.

Adult↗