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Schauthauer-Marie-Sainton syndrome
Also known as:
Maladie de P. Marie et Sainton
Marie-Sainton syndrome
Scheuthauer’s syndrome
Scheuthauer-Marie syndrome
Associated persons:
Johan Vilhelm Hultkrantz
Pierre Marie
Paul Sainton
Gustav Scheuthauer
Description:
A fairly common osseous anomaly with a long list of symptoms, of which just a few are included here. The condition is marked by aplasia of one or both clavicles, with a remarkable range of shoulder movements, and defective ossification of the membranous bones of the skull. The fontanels may remain open until adulthood, but the sutures often close with interposition of wormian bones. Large bosses of the frontal, parietal, and occipital regions give the skull a large globular shape with a small face. Other abnormalities may include hypoplasia of the facial bones, absence of paranasal sinuses, high-arched palate, cleft palate, hip dislocation, underdeveloped pelvis, and various osseous defects. In some instances when the bones of the cranium are not affected, the anomaly is called hereditary cleidal dysostosis. Widespread racial, ethnic, and regional occurrence. Autosomal dominant inheritance; also cases of spontaneous occurrence.
Bibliography:
- G. Scheutauer:
Kombination rudimentärer Schlüsselbeine mit Anomalien des Schädels beim erwachsenen Menschen.
Allgemeine Wiener medizinische Zeitung, 1871, 16: 293-295.
- P. Marie, P. Sainton:
Observation d’hydrocéphalie héréditaire (père et fils), par vice de dévelopment du crâne et du cerveau.
Bulletins et memoires de la Société medicale des hôpitaux de Paris, 1897, 14: 706-712.
- P. Marie, P. Sainton:
Sur la dysostose cléido-crânienne héréditaire.
Bulletins et memoires de la Société medicale des hôpitaux de Paris, 1898, 15: 436.
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