TABLE 1
FROM:
Genotype−phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
Ernie M H F Bongers, Frans T Huysmans, Elena Levtchenko, Jacky W de Rooy, Johan G Blickman, Ronald J C Admiraal, Patrick L M Huygen, Johannes R M Cruysberg, Pauline A M P Toolens, Judith B Prins, Paul F M Krabbe, George F Borm, Jeroen Schoots, Hans van Bokhoven, Angela M F van Remortele, Lies H Hoefsloot, Albert van Kampen and Nine V A M Knoers
BACK TO ARTICLETable 1. Limb and pelvis anomalies in 32 nail-patella syndrome families
| Frequency (%)a | |
|---|---|
| Thumbnail and or fingernail anomalies | 100 |
| Nail hypoplasia, splitting, ridging | 46.1 |
| Nail aplasia | 20.2 |
| Triangular lunulae | 79.8 |
| Toenail dysplasia and or dystrophia (mainly comprised of small and brittle nails) | 52.5 |
| Swan-neck deformity of fingers | 76.5 |
Absence of  1 creases on the dorsal aspect of the distal interphalangeal joints of the fingers | 82.5 |
| Pterygia elbow | 5.0 |
| Scoliosis | 34.5 |
| Patellofemoral joint anomaliesb | |
| Patellar aplasia | 6.1 |
| Patellar hypoplasia | 81.0 |
| Underdeveloped lateral femoral condyles | 78.3 |
| Prominent medial femoral condyles | 76.7 |
| Genu valgum | 61.2 |
| Elbow anomaliesb | |
| Radial head hypoplasia | 45.2 |
| Radial head dislocation | 45.1 |
| Capitellum hypoplasia | 21.7 |
| Cubitus valgus | 12.0 |
| Pelvis anomalies | |
| Iliac horns | 78.4 |
| Iliac bone hypoplasia | 75.5 |
| Iliac bone flaring | 76.6 |
a Findings of physical and radiographic investigation were available from series ranging from 87 to 106 individuals.
b The skeletal anomalies were separately evaluated for the left and right patellofemoral joint and elbow, and the frequency of these anomalies represent the sum of these findings, respectively.
