The following tables enlist congenital Goldenhar Syndrome anomalies and in particular those noticed in the cases belonging to the Group.
To fill the table, the diagnoses of the cases were gathered and all congenital anomalies were singled out.
The table is considering about 45 cases belonging to the Group and each number (CASES N°) corresponds to a patient.
All anomalies listed here are gathered from scientific texts and from all gathered diagnoses.
The aim of this collection is to quantify the incidence of each anomaly on the total amount of those cases analysed.
The collection is obviously made on a small number of cases and today (August 2004) it still is incomplete since many diagnoses have not reached us, yet.
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CASES N°
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1
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2
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3
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4
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5
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6
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7
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8
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9
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10
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| Ala auris anomalies | * | * | * | * | * | * | * | * | * | |
| Anotia / Microtia - right | * | * | * | * | * | * | * | |||
| Anotia / Microtia - left | * | |||||||||
| Meatus acusticus atresia | * | * | * | * | * | * | * | |||
| Preauricular tags | * | * | * | * | ||||||
| Preauricular fistula | ||||||||||
| Inner ear alterations | * | |||||||||
| Hypoacousis right | * | * | * | |||||||
| Hypoacousis left |
*
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| Deafness right |
*
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*
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| Deafness left |
*
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| Eye anomalies | * | |||||||||
| Coloboma | ||||||||||
| Epibulbar dermoid cyst | * | |||||||||
| Conjonctival dermoid cysts | * | |||||||||
| Sub-conjonctival lipomas | * | |||||||||
| Dermolipomas | * | |||||||||
| Corneal ulcer | * | |||||||||
| Optic nerves chorio-retinal coloboma | * | |||||||||
| Cataract | * | |||||||||
| Orbit hypoplasia | * | |||||||||
| Microphtalmia | * | |||||||||
| Anophtalmia | * | |||||||||
| Eye hypertelorism | ||||||||||
| Astigmatism | * | * | ||||||||
| Strabismus | * | |||||||||
| Myopia | * | |||||||||
| Lacrimal ducts obstruction | * | |||||||||
| Hemifacial microsomy | * | * | * | * | * | * | * | * | * | * |
| Mandibular hypoplasia - right | * | * | * | * | * | * | * | * | * | |
| Mandibular hypoplasia - left | * | |||||||||
| Elongated rima oris | * | * | ||||||||
| Brain anomalies | ||||||||||
| Mental / Psychomotor retardation | * | * | ||||||||
| Hydrocephalus | ||||||||||
| Pons cerebri hypoplasia | ||||||||||
| Cerebellar atrophy | ||||||||||
| Corpus callosum agenesis | ||||||||||
| Lipoma in brain | * | * | ||||||||
| Skull bones asymmetry | * | * | ||||||||
| Microcephaly | ||||||||||
| Plagiocephaly | * | |||||||||
| Colpo-cephaly | ||||||||||
| Facial paralysis | * | |||||||||
| Cranial nerves anomalies | ||||||||||
| Lamina papyracea agenesis | * | |||||||||
| Cleft lip | * | |||||||||
| Cleft palate | * | |||||||||
| Cleft lip and palate | ||||||||||
| Macrostomy | ||||||||||
| Retrognathia / Micrognathia | * | |||||||||
| Palatum ogivae | * | * | ||||||||
| Bifid uvula | * | |||||||||
| Choanae atresia | * | |||||||||
| Nasal pyramid hypoplasia | ||||||||||
| Oesophageal atresia | * | |||||||||
| Pharynx anomalies | ||||||||||
| Pulmonary anomalies | ||||||||||
| Pulmonary agenesis | ||||||||||
| Pulmonar hypoplasia | * | |||||||||
| Pulmonary artery anomalies | * | |||||||||
| Vena portae anomaly | ||||||||||
| Vena portae agenesis | * | |||||||||
| Cardiopathy | ||||||||||
| Dextrocardia | * | |||||||||
| Interventricle defects | * | * | ||||||||
| Istmus aortae hypoplasia | * | |||||||||
| Vertebral anomalies | * | * | * | * | ||||||
| Scoliosis | * | * | * | |||||||
| Costal anomalies | * | * | * | |||||||
| Sacrum and coccyx anomalies | ||||||||||
| Kidney anomalies | * | |||||||||
| Renal hypoplasia | * | |||||||||
| Renal agenesis | ||||||||||
| Genito-urinary anomalies | ||||||||||
| Arnold-Chiari Sindrome | ||||||||||
| Duane Sindrome | * | |||||||||
| Immunity deficit | * | |||||||||
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