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A Newly Recognized Dwarfing Syndrome

Meinhard Robinow, MD; Frederic N. Silverman, MD; Hugo D. Smith, MD
Am J Dis Child. 1969;117(6):645-651. doi:10.1001/archpedi.1969.02100030647005.
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FOUR CASES of a previously unrecognized dwarfing syndrome have been observed in one family. Four additional cases are thought to have occurred in preceding generations. We believe that the familial disorder described below is not only different from known disturbances of growth, including achondroplasia, but that it shows, in addition, several characteristic nonskeletal defects that justify its description as a new dwarfing syndrome.

Report of Cases  Case 1 (VI3, Fig 1).—The propositus is the son of nonconsanguineous parents. The mother was 20, the father 26 years old at the time of birth. The pregnancy, the mother's first, had been uneventful. Because of her short stature, 147.5 cm (4 ft 10 inches), a roentgenographic pelvimetry was performed. Interpretation was as follows: "transverse diameter, 13.5 cm; true conjugate, 11.9 cm; and bispinous diameter, 9.9 cm. Midpelvis and outlet appear adequate. No disproportion between fetal skull and pelvis." Labor was started at

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