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[Kniest's disease].

L Lomboni, Y Baccichetti, R Mokdad

    Revue De Stomatologie Et De Chirurgie Maxillo-Faciale
    |January 1, 1984
    PubMed
    Summary
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    Kniest's disease, a rare genetic disorder, presents with short limbs and enlarged joints in infants. Early diagnosis is crucial for managing associated conditions like palatine clefts and skeletal abnormalities.

    Area of Science:

    • Genetics
    • Pediatrics
    • Orthopedics

    Background:

    • Kniest's disease is a rare skeletal dysplasia.
    • It is characterized by disproportionate short stature and joint abnormalities.
    • The condition is typically inherited in an autosomal dominant pattern.

    Observation:

    • A one-year-old child with Kniest's disease presented for surgery.
    • The patient had a bone deficit in a palatine cleft.
    • Clinical features included short limbs, enlarged joints, mild facial dystrophy, and trunkal nanism.

    Findings:

    • Radiological signs include reduced vertebral body height and potential cuneiform deformity of lumbar vertebrae.
    • Epiphyseal development is abnormal, with large knee epiphyses and small, fragmented, or absent femoral heads.

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  • Associated conditions frequently observed are myopia, deafness, and palatine clefts.

    • Implications:

    • Early recognition of Kniest's disease is vital for timely intervention.
    • Management requires a multidisciplinary approach, addressing skeletal, visual, auditory, and orofacial issues.
    • Differentiating Kniest's syndrome from other skeletal dysplasias like metatropic dwarfism is essential for accurate prognosis and treatment planning.