Fatma DEMİREL, Ayhan SÖĞÜT, Ceyda ACUN, Nazan TOMAÇ, Bahri ERMİŞ, Birol YÜKSEL

Nail patella sendromlu bir aile: Vaka sunumu

Nail-patella sendromu (NPS) tırnaklar ve kemiklerin yanısıra göz ve böbrekleri de tutabilen otozomal dominant geçişli nadir bir hastalıktır. Elde baş ve işaret parmaklarının tırnaklarında hipoplazi, displazi ve V şeklinde lunula ile karakterizedir. Kemiklerde patella yokluğu veya hipoplazisi, iliak horn, gözde glokom, mikrokornea ve nefropati diğer önemli bulgulardır. Bur yazıda babaanne, baba ve kendisinde her iki el baş ve işaret parmaklarının tırnaklarında hipoplazi, displazi ve V şeklinde lunula, babasında ve kendisinde patella aplazisi, babaannesinde patella hipoplazisi, ayrıca kendisinde strabismus saptanan 2.5 yaşında bir erkek hasta sunulmuştur.

Anahtar Kelimeler:

Tırnak-patella sendromu, Aile özellikleri, Doğumsal, kalıtsal ve yenidoğan hastalıkları ve anormallikleri

A family with Nail-patella syndrome: Case report

Nail-patella syndrome (NPS) is an autosomal dominant hereditary disorder involving nails, bones, eyes and kidneys. It is characterized by onycodysplasia of the finger nails and V-shaped lunulae. Aplasia or hypoplasia of patella, iliac horns were shown in variable expressions. Extraosseous manifestations include ocular (glaucoma, microcornea) and renal involvement. We report a two-and-a half-year-old boy whose father and grandmother had NPS. All the patients had dysplastic, hypoplastic finger nails and V shaped lunulae. The patient child, and his father had no patella but his grandmother had hypoplastic patella. None of them had renal involvement but the patient had strabismus.

Keywords:

Nail-Patella Syndrome Family Characteristics, Congenital, Hereditary, and Neonatal Diseases and Abnormalities,

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