Rare Diseases Symptoms Automatic Extraction

Bilateral penetrating keratoplasty for sclerocornea in an infant with monosomy 21. Case report and review of the literature.

[monosomy 21]

An 8-month-old caucasian girl with monosomy 21 and sclerocornea underwent bilateral penetrating keratoplasties. Both light and electron microscopic studies were performed on the corneal buttons. Light microscopy revealed variable and abnormal corneal thickness with the peripheral cornea being thinner than the center, lack of Bowman's layer, irregular stromal lamellae, stromal vascularization, markedly underdeveloped or absent Descemet's membrane, and marked attenuation of the endothelium. Electron microscopy demonstrated basal epithelial cells with a thin epithelial basement membrane residing directly on stromal lamellae without intervening Bowman's layer. Stromal collagen fibrils were irregular in size measuring 38-69 nm in diameter. We believe this to be the first report of corneal transplantation and the second reported case of sclerocornea in a patient with monosomy 21.

Diseases presenting "first report" symptom

  • achondroplasia
  • alexander disease
  • aniridia
  • cadasil
  • canavan disease
  • child syndrome
  • cohen syndrome
  • congenital toxoplasmosis
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dedifferentiated liposarcoma
  • dentinogenesis imperfecta
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • esophageal squamous cell carcinoma
  • fabry disease
  • familial mediterranean fever
  • focal myositis
  • harlequin ichthyosis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • inclusion body myositis
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kindler syndrome
  • krabbe disease
  • lamellar ichthyosis
  • liposarcoma
  • lymphangioleiomyomatosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • oligodontia
  • omenn syndrome
  • pendred syndrome
  • pleomorphic liposarcoma
  • primary hyperoxaluria type 1
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • triple a syndrome
  • typhoid
  • waldenström macroglobulinemia
  • werner syndrome
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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