Multiple joint dislocations: An additional skeletal finding in Lowry–Wood syndrome?

We report on the case of a 17‐year‐old boy with clinical features compatible with Lowry–Wood syndrome: microcephaly, short stature, multiple epiphyseal dysplasia, tapetoretinal degeneration, and mental retardation. Bilateral restricted elbow extension, knock knees and hip dislocation were also prese...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2009-04, Vol.149A (4), p.737-741
Main Authors: Magnani, Cinzia, Tedesco, Salvatore Antonio, Dallaglio, Sara, Sommi, Marcello, Bacchini, Ermanno, Vetro, Annalisa, Zuffardi, Orsetta, Bevilacqua, Giulio
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
Comparative Genomic Hybridization
DNA - genetics
Genetic Variation
Growth Disorders - genetics
Humans
Intellectual Disability - genetics
Joint Dislocations - diagnostic imaging
Joint Dislocations - genetics
Lowry–Wood syndrome
Male
Malformations of the nervous system
Medical genetics
Medical sciences
microcephaly
Microcephaly - genetics
multiple epiphyseal dysplasia
multiple joint dislocations
Mutagenesis, Insertional
Neurology
Osteochondrodysplasias - diagnostic imaging
Osteochondrodysplasias - genetics
Phenotype
Radiography
Retinal Degeneration - genetics
Sequence Deletion
Syndrome
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:We report on the case of a 17‐year‐old boy with clinical features compatible with Lowry–Wood syndrome: microcephaly, short stature, multiple epiphyseal dysplasia, tapetoretinal degeneration, and mental retardation. Bilateral restricted elbow extension, knock knees and hip dislocation were also present. Radiographs showed evidence of radial dislocation due to the absence of the radial heads, lateral dislocation of both patellae, multiple epiphyseal dysplasia that was more severe at the proximal femoral epiphyses, and dislocation of both hips with severe hip dysplasia. The patient developed a behavioral disorder at age 15. Conventional karyotyping was normal (46,XY). Molecular karyotyping, performed through array‐based competitive genomic hybridization, showed copy number variants that were probably benign. We suggest that multiple joint dislocations, including the patellae, may be a sign of Lowry–Wood syndrome. © 2009 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32773