CLINICAL HISTORY.—This boy was born at full term after the mother's uneventful pregnancy and delivery. The birth weight was 2,324 gm (5 lb 2 oz). He was admitted to the B. J. Wadia Hospital for Children, Bombay, India, for deformities of the extremities. The parents and other siblings were normal and there was no history of consanguinity.
Physical Examination.—The infant appeared slightly cyanotic and there was marked subcostal retraction and breathing was labored. He was 15 in. in length. The head was globular in shape and soft to palpation. All extremities were deformed and flaccid. The results of the remainder of the examination was within normal limits.
The serum calcium level was 8.6 mg/100ml; serum phosphorus level, 6.8 mg/100ml, and the serum alkaline phosphatase value, 2.0 Bodansky units. A clinical photograph and roentgenographic studies were obtained.
Denouement and Discussion
Hypophosphatasia in the Newborn
Gwinn JL, Lee FA, Joshi NC, Desai MP. Radiological Case of the Month. Am J Dis Child. 1971;122(2):151-152. doi:10.1001/archpedi.1971.02110020085012