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 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.
Magnani
Cinzia
C
Department of Pediatrics, University Hospital, Parma, Italy. cmagnani@unipr.it
Tedesco
Salvatore Antonio
SA
Dallaglio
Sara
S
Sommi
Marcello
M
Bacchini
Ermanno
E
Vetro
Annalisa
A
Zuffardi
Orsetta
O
Bevilacqua
Giulio
G
D000293:Adolescent; D055028:Comparative Genomic Hybridization; D004247:DNA / Q000235:genetics; D014644:Genetic Variation; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D004204:Joint Dislocations / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D016254:Mutagenesis, Insertional; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010641:Phenotype; D011859:Radiography; D012162:Retinal Degeneration / Q000235:genetics*; D017384:Sequence Deletion; D013577:Syndrome
D004247:DNA