J Pediatr Genet 2022; 11(01): 051-058
DOI: 10.1055/s-0040-1714700
Case Report

Orthopaedic Aspects of SAMS Syndrome

1   Department of Orthopedics, Maastricht Universitair Medisch Centrum, Maastricht, The Netherlands
2   Care and Public Research Health Institute, Maastricht, The Netherlands
,
Heleen M. Staal
1   Department of Orthopedics, Maastricht Universitair Medisch Centrum, Maastricht, The Netherlands
2   Care and Public Research Health Institute, Maastricht, The Netherlands
,
Colin A. Johnson
3   Division of Molecular Medicine, Leeds Institute of Medical Research, The University of Leeds, Leeds, United Kingdom
,
Alistair Calder
4   Department of Radiology, Great Ormond Street Hospital, London, United Kingdom
,
Neeti Ghali
5   Department of Clinical Genetics, Northwick Park Hospital, Harrow, United Kingdom
,
Albert E. Chudley
6   Department of Pediatrics, University of Manitoba, Winnipeg, Manitoba, Canada
7   Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada
,
Constance T.R.M. Stumpel
8   Department of Clinical Genetics, Maastricht Universitair Medisch Centrum, Maastricht, The Netherlands
9   School for Oncology and Developmental Biology, Maastricht, The Netherlands
› Institutsangaben
Funding This work was supported by the Sir Jules Thorn Award for Biomedical Research (JTA/09, to C.A.J.).

Abstract

The combination of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS, OMIM: 602471) has been reported as an ultra-rare, autosomal-recessive developmental disorder with unique skeletal anomalies. To the present date, only four affected individuals have been reported. There are several striking orthopaedic diagnoses within the SAMS syndrome. In particular, the scapulohumoral synostosis and the bilateral congenital ventral dislocation of the hips. The purpose of this report is to underline the importance of recognizing pathognomic features of SAMS syndrome. Whenever a bilateral congenital ventral dislocation of the hips and/or a scapulohumoral synostosis is found or clinically suspected, SAMS syndrome should be considered as the primary diagnosis until proven otherwise.



Publikationsverlauf

Eingereicht: 09. April 2020

Angenommen: 15. Juni 2020

Artikel online veröffentlicht:
29. Juli 2020

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