TY - JOUR
A2 - Dobbs, Matthew B.
AU - Haddad, Samir
AU - Ghedira-Besbes, Leila
AU - Bouafsoun, Chahra
AU - Hammami, Sabeur
AU - Chouchene, Slaheddine
AU - Ben Meriem, Chebil
AU - Guediche, Mohamed-néji
PY - 2010
DA - 2010/08/08
TI - Nail-Patella Syndrome Associated with Short Stature: A Case Series
SP - 869470
VL - 2010
AB - Introduction. Nail-patella syndrome (NPS) is a rare genetic disorder that is characterized by a pleiotropic malformation affecting the nail, the skeleton, and occasionally the central nervous system and the kidneys. Case Presentation. We report two paediatric cases, which are of two sisters, who aged, respectively, two and five years. They are admitted to explore short stature. The initial clinical examination and radiologic findings confirmed the diagnosis of Nail-patella syndrome. Conclusion. Skeletal, ophthalmologic, and renal involvements were mostly associated with NPS. The association with short stature was exceptional.
SN - 1687-9627
UR - https://doi.org/10.1155/2010/869470
DO - 10.1155/2010/869470
JF - Case Reports in Medicine
PB - Hindawi Publishing Corporation
KW -
ER -