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Am J Med Genet A. 2017 Apr;173(4):1087-1089. doi: 10.1002/ajmg.a.38095. Epub 2017 Feb 12.

Foramen magnum compression in Coffin-Lowry syndrome: A case report.

Author information

1
Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
2
Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama.
3
Department of Neurosurgery, Children's of Alabama, University of Alabama at Birmingham, Birmingham, Alabama.
4
Department of Surgery/Otolaryngology, University of Alabama at Birmingham, Birmingham, Alabama.

Abstract

Coffin-Lowry syndrome (CLS) is a rare genetic disorder inherited in an X-linked dominant pattern. Common manifestations include intellectual disability, growth retardation, dysmorphic facial features, and variable skeletal anomalies. Here we report a patient who first presented with episodes of apparent life-threatening events (ALTE) found to be caused by hydrocephalus and brainstem compression at the foramen magnum. Together with his small size, short limbs and fingers, and facial appearance, the narrowing of the foramen magnum lead to the initial clinical misdiagnosis of hypochondroplasia. Subsequent evaluation and testing lead to the correct diagnosis of CLS. This case demonstrates the variability in presentation of CLS, and that skeletal findings may be misleading in infancy.

KEYWORDS:

Coffin-Lowry syndrome; foramen magnum compression; hydrocephalus; hypochondroplasia; skeletal anomalies

PMID:
28190284
DOI:
10.1002/ajmg.a.38095
[Indexed for MEDLINE]

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