Clinical Pediatrics

 

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Clinical Pediatrics, Vol. 16, No. 8, 690-697 (1977)
DOI: 10.1177/000992287701600803

Thanatophoric Dwarfism

Two Case Reports and Survey of the Literature

Mark Nissenbaum

Departments of Orthopedics, Radiology and Pathology at the Children's Hospital of Philadelphia, 34th and Civic Center Blvd., Philadelphia, Pennsylvania 19104

Stanley M. K. Chung

Departments of Orthopedics, Radiology and Pathology at the Children's Hospital of Philadelphia, 34th and Civic Center Blvd., Philadelphia, Pennsylvania 19104

Henrietta K. Rosenberg

Departments of Orthopedics, Radiology and Pathology at the Children's Hospital of Philadelphia, 34th and Civic Center Blvd., Philadelphia, Pennsylvania 19104

Billy E. Buck

Departments of Orthopedics, Radiology and Pathology at the Children's Hospital of Philadelphia, 34th and Civic Center Blvd., Philadelphia, Pennsylvania 19104

Thanatophoric dwarfism is a severe form of short-limbed dwarfism in which cardiorespiratory failure uniformly results in death in the neonatal period. Its radiographic features include markedly flattened vertebral bodies with a typical U-shaped deformity, a flat squat pelvis, and short, bowed extremities with flaring and irregularity of the metaphyses. These char acteristic features distinguish this entity from the two other most commonly confused congenital short-limbed forms of dwarfism—achondroplasia and achondrogenesis. The distinctions are discussed in the text.


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