Nail-patella syndrome associated with short stature: a case series.
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.
Haddad
Samir
S
Department of Paediatrics, CHU Fattouma Bourguiba, 5000 Monastir, Tunisia.
Ghedira-Besbes
Leila
L
Bouafsoun
Chahra
C
Hammami
Sabeur
S
Chouchene
Slaheddine
S
Ben Meriem
Chebil
C
Guediche
Mohamed-Néji
MN
J Am Acad Dermatol. 2003 Dec;49(6):1086-7
14639389
J Pediatr. 2016 Feb;169:43
26810100
Mol Vis. 2007 Apr 27;13:639-48
17515884
Pediatr Res. 2005 Jun;57(6):783-8
15774843
Am J Med. 1950 Jun;8(6):738-44
15419189
J Electrocardiol. 2007 Oct;40(4):352-4
17291523