An atypical case of Treacher Collins syndrome.
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Adult↗
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Results for “MANDIBULOFACIAL DYSOSTOSIS”
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[Anesthesia for a patient with Hallermann-Streiff syndrome (author's transl)].
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Anesthesia, Endotracheal↗
Treacher Collins syndrome: (a case report).
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Humans↗
Orodental findings and genetic disorders.
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Chromosome Aberrations↗
[Oculo-auriculo-vertebral dysplasia (Goldenhar syndrome). Three observations in infants].
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Adolescent↗
[Histological findings of corneal tumor in Goldenhar syndrome].
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Child↗
[Treacher Collins syndrome. Case report and review of the literature].
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Abnormalities, Multiple↗
Bilateral congenital absence of the stapes and cervical spine anomaly.
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Audiometry↗
Osteodysplasty (Melnick and Needles syndrome).
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Bone Diseases, Developmental↗
Osteodysplasty (Melnick-Needles syndrome) in a male.
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Bone Diseases, Developmental↗
Hanhart syndrome: possibility of autosomal recessive inheritance.
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Child, Preschool↗
Autosomal dominant Goldenhar syndrome.
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Adolescent↗
Goldenhar's syndrome (an analysis of 10 cases and aetiological considerations).
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Adult↗
Mandibulo oculo facial dyscephaly: a case report.
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Humans↗
The axial mesodermal dysplasia spectrum.
Features of both the Goldenhar and the caudal regression syndromes were found in the patient described. A search of the literature revealed two other patients having both conditions. However, a number of other individuals have been reported with Goldenhar or related syndromes who have malformations in the caudal region or, conversely, who have the caudal regression syndrome and possess cranial anomalies. Possible explanations for the commonality of malformations seen in these syndromes are presented and discussed. It is suggested that the term, "axial mesodermal dysplasia spectrum" be used in patients manifesting this overlap to emphasize the importance of searching for the other malformations seen in this spectrum of anomalies.
Abnormalities, Multiple↗
Treacher Collins' syndrome.
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Child, Preschool↗
[Cataract surgery for Hallermann-Streiff syndrome (author's transl)].
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Adult↗
[Differential diagnosis of metaphyseal dysplasias and osteodysplasty (osteodysplasty of Melnick and Needles) (author's transl)].
The article reports on 4 patients with rare modeling defects of the long bones. These defects are metaphyseal dysplasia, craniometaphyseal dysplasia, frontometaphyseal dysplasia, and osteodysplasty (osteodysplasty of Melnick and Needles). The differential diagnostic criteria are shown in a table to allow diagnosis already in children. This appears important in respect of the therapy to be employed (corrective surgery) and for prognosis, as well as for giving patients proper genetic and vocational advice.
Adolescent↗