Langer-Saldino syndrome

Alternative eponyms

Related people

A lethal form of neonatal dwarfism.

Description

A lethal form of neonatal dwarfism characterized by a short trunk, disproportionately large head, prominent abdomen, hydropic appearance, and micromelia. Death usually occurs in utero or shortly after birth. Believed to be transmitted as an autosomal recessive trait.

Bibliography

  • L. O. Langer, J. W. Spranger, L. Greinacher, R. C. Herdman:
    Thanatophoric dwarfism.
    Radiology, Easton, Pennsylvania, 1969, 92: 285-294.
  • R. M. Saldino:
    Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism.
    American Journal of Roentgenology, Leesburg, Virginia, 1971, 112: 185-197.

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