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Journal of Diagnostic Medical Sonography
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Hypochondrogenesis: A Rare Lethal Skeletal Dysplasia

Jean M. Pantaleo, RT, RDMS

Inc., 197 W. Legion Road, #300, Brawley, CA 92227; jmpgodiva{at}aol.com

Marveen Craig, RDMS

Tucson, Arizona

Donald M. Ehman, MD

Inc., Brawley, California

A case of achondrogenesis/hypochondrogenesis type II was reported in the fetus of a 24-year-old woman. The sonographic diagnosis was made at 16 and 18 weeks gestation, when shortened long bones and a narrow, hypomineralized spine was observed. Targeted scans at a tertiary high-risk center confirmed the diagnosis. The patient chose to terminate the pregnancy due to the lethal nature of this condition. This case demonstrates the value of routine scanning in the early detection of various fetal abnormalities, including those seen in skeletal dysplasia.

Key Words: skeletal dysplasia • achondrogenesis • hypochondrogenesis • dwarfing condition

Journal of Diagnostic Medical Sonography, Vol. 17, No. 6, 354-357 (2001)
DOI: 10.1177/875647930101700609
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