NAIL - PATELLA SYNDROME
Victor A. McKusick, OMIM, Johns Hopkins University, February 16, 2007
Alternative titles; symbols
TURNER - KIESER SYNDROME
Gene Map Locus: 9q34.1
Dysplasia of the nails and absent or hypoplastic patellae are the cardinal features but others are iliac horns, abnormality of the elbows interfering with pronation and supination, and in some cases nephropathy. Nephropathy was an associated abnormality in the family of Hawkins and Smith (1950). The renal change resembles glomerulonephritis ... In the case of Simila et al. (1970) took the appearance of congenital nephrosis ... This condition is sometimes called Fong disease for the physician who discovered it ( Fong, 1946 ) in a patient on whom he performed intravenous pyelography while investigating hypertension and albuminuria related to pregnancy
... The nail-patella locus and the ABO blood group locus ( 110300 ) are linked ...
Duba et al. ( 1998 ) identified a balanced t( 9;17 )( q34.1; q25 ) associated with NPS ...
... Unique from of renal dysplasia ( Chen et al., 1998 ) ...
McIntosh et al. (1997) described cosegregation of open angle glaucoma ( OAG; 137750 ) and NPS ... Glaucoma was present in 9 (31%) ... That the glaucoma is a genuine pleiotropic effect of the NPS1 gene is supported by the finding of anterior segment ocular abnormalities in mice with targeted disruption of the Lmx1b gene ( McIntosh, 1998 ). Vollrath et al. (1998) demonstrated mutations in the LMX1B gene in 4 families with combined NPS and open angle glaucoma.
Feingold et al. (1998) reported the use of ultrasound in third - trimester diagnosis of NPS ...
Nail - Patella Syndrome and Glaucoma
University of Michigan Kellogg Eye Center, 2008
Examined 24 people with Nail - Patella syndrome in two families and found that more than half of them suffered from glaucoma. "As a result of these findings, we recommend people with Nail - Patella syndrome have regular ophthalmologic exams so glaucoma can be diagnosed and treated as early as possible," said Lichter, who is chairman of the University of Michigan Health ...
I.B.I.S. Birth Defects, 2005
A fact sheet for professionals in Ukrainian
Synonyms ... Clinical picture ... Diagnostic procedures ... Treatment ... Prevention ...
Last Updated: 2008/1/17