E. Hershkovitz et al., THE NEW SYNDROME OF CONGENITAL HYPOPARATHYROIDISM ASSOCIATED WITH DYSMORPHISM, GROWTH-RETARDATION, AND DEVELOPMENTAL DELAY - A REPORT OF 6 PATIENTS, Israel journal of medical sciences, 31(5), 1995, pp. 293-297
We describe six children of Arab origin with a syndrome of congenital
hypoparathyroidism, severe growth retardation, developmental delay, an
d dysmorphism. The most prominent dysmorphic features were microcephal
y, facial and dental anomalies, and small hands and feet. Bone age was
markedly retarded. Neither immunological nor chromosomal abnormalitie
s were found. Insulin-like growth factor-1 serum levels, measured in t
wo patients, were abnormally low.