Abstract
A second girl with the unique combination of auditory canal atresia and scapulohumeral synostosis is reported. This patient also had bilateral clubfeet and genital abnormalities. The other patient reported with this syndrome and the presently reported child both had consanguineous parents. Mental development was normal in both children. The acronym SAMS (Short stature, Auditory canal atresia, Mandibular hypoplasia, and Skeletal abnormalities) was suggested to describe the main manifestations in this syndrome.
Original language | English |
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Pages (from-to) | 359-364 |
Number of pages | 6 |
Journal | American Journal of Medical Genetics |
Volume | 110 |
Issue number | 4 |
DOIs | |
Publication status | Published - 15 Jul 2002 |
Keywords
- Auditory canal atresia
- Autosomal recessive
- Clubfeet
- Genital anomaly
- Humeroscapular synostosis
- Normal mental development
- SAMS syndrome