Two sisters1 and two unrelated male infants2 were reported to have a rare syndrome of camptodactyly, ankylosis, facial anomalies, and pulmonary hypoplasia. Camptodactyly is herein defined as permanent flexion of one or more fingers, and ankylosis as an immobility and consolidation of joints. We report an additional similar case of an infant who was initially suspected of having trisomy 18 syndrome, but who was subsequently found to possess those characteristics of the "Pena-Shokeir syndrome." Although this case could be classified as arthrogryposis multiplex congenita,3 a more descriptive diagnosis that may elucidate the etiology and enhance the treatment of this disorder is desired.
Report of a Case.—A male infant weighing 1,000 gm was born to a 23-year-old gravida 3, para 3, abortus 0 mother after 36½ weeks of gestation. The father was 25 years old. The mother reported nausea and vomiting during the third month. Neither parent
MAILHES JB, LANCASTER K, BOURGEOIS MJ, SANUSI ID. 'Pena-Shokeir Syndrome' in a Newborn Male Infant. Am J Dis Child. 1977;131(12):1419-1420. doi:10.1001/archpedi.1977.02120250101035