Orthopaedic Aspects of SAMS Syndrome

Dirk E. Schrander; Heleen M. Staal; Colin A. Johnson; Alistair Calder; Neeti Ghali; Albert E. Chudley; Constance T.R.M. Stumpel

doi:10.1055/s-0040-1714700

Journal of Pediatric Genetics, Table of Contents

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

Case Report

Orthopaedic Aspects of SAMS Syndrome

Dirk E. Schrander

¹Department of Orthopedics, Maastricht Universitair Medisch Centrum, Maastricht, The Netherlands

²Care and Public Research Health Institute, Maastricht, The Netherlands

,

Heleen M. Staal

¹Department of Orthopedics, Maastricht Universitair Medisch Centrum, Maastricht, The Netherlands

²Care and Public Research Health Institute, Maastricht, The Netherlands

,

Colin A. Johnson

³Division of Molecular Medicine, Leeds Institute of Medical Research, The University of Leeds, Leeds, United Kingdom

,

Alistair Calder

⁴Department of Radiology, Great Ormond Street Hospital, London, United Kingdom

,

Neeti Ghali

⁵Department of Clinical Genetics, Northwick Park Hospital, Harrow, United Kingdom

,

Albert E. Chudley

⁶Department of Pediatrics, University of Manitoba, Winnipeg, Manitoba, Canada

⁷Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada

,

Constance T.R.M. Stumpel

⁸Department of Clinical Genetics, Maastricht Universitair Medisch Centrum, Maastricht, The Netherlands

⁹School for Oncology and Developmental Biology, Maastricht, The Netherlands

› Author Affiliations

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.

Keywords

SAMS syndrome - scapulohumoral synostosis - ventral dislocation of the hips - auditory canal atresia - mandibular hypoplasia

Full Text

References

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