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Spondylohypoplasia, Arthrogryposis, and Popliteal Pterygium

FRANCISCO G. TORRES-AYBAR, MD; JOSÉ A. LIZASOAIN, MD
Am J Dis Child. 1980;134(10):1001. doi:10.1001/archpedi.1980.02130220077034.
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ABSTRACT

Sir.—We read with interest the report of Turkel et al in the Journal (134:42-45, 1980) on a malformation complex that included spondylohypoplasia, arthrogryposis, and popliteal pterygium. We recently evaluated the condition of a male infant with the same characteristics. We believe that our description will add some observations to the already described anomalies and assist in recognition of this new malformation complex.

Report of a Case.—A term, male infant was born by cesarean section to a 22-year-old gravida 2, para 2, Puerto Rican mother. The father is a 23-year-old Puerto Rican. The marriage is nonconsanguineous. Their first child is a healthy 2½-year-old boy. There was no history of illness or drug ingestion during pregnancy. The birth weight was 2.830 g.

At birth the following features were noted: head hyperextension, wide anterior fontanel, faint frontal nevus flammeus, mild ocular proptosis, palpebral ptosis, high-arched palate, short neck, arthrogryposis, bilateral incomplete

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