title: Nail-patella syndrome associated with short stature: a case series.
abstract: 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.
authors.affiliation: Department of Paediatrics, CHU Fattouma Bourguiba, 5000 Monastir, Tunisia.
authors.forename: Samir
authors.initials: S
authors.lastname: Haddad
authors.forename: Leila
authors.initials: L
authors.lastname: Ghedira-Besbes
authors.forename: Chahra
authors.initials: C
authors.lastname: Bouafsoun
authors.forename: Sabeur
authors.initials: S
authors.lastname: Hammami
authors.forename: Slaheddine
authors.initials: S
authors.lastname: Chouchene
authors.forename: Chebil
authors.initials: C
authors.lastname: Ben Meriem
authors.forename: Mohamed-Néji
authors.initials: MN
authors.lastname: Guediche
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