Metaphyseal dysostosis and congenital nystagmus in a male infant with the fragile X syndrome.
A 14-month-old male with congenital nystagmus, sparse scalp hair, protuberant ears, developmental delay, and radiologic manifestations of mild metaphyseal dysostosis was coincidentally found to have the fra(X) chromosome in 67% of analyzed metaphases. This observation underscores the need for fra(X) analyses in children with developmental deficit of unknown cause.
C A
CA
Williams
E S
ES
Cantú
J L
JL
Frías
D002658:Developmental Disabilities / Q000235:genetics; D004413:Dysostoses / Q000150:complications / Q000235:genetics*; D005600:Fragile X Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009759:Nystagmus, Pathologic / Q000150:complications / Q000151:congenital / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000150:complications*