Infantile convulsions: transient infantile hypocalcemia associated with skeletal deformities.
An infant with skeletal deformities and hypocalcemic convulsions is described. The convulsions, which were first noted in the 5th week of life, as well as the low serum calcium level were transient. The skeletal deformities consited of deformation of the terminal phalanges of the right third finger and right second toe, syndactyly of the third and fourth finger of both hands and left pes equinovarus. X-ray examination revealed abnormal shape and structure of some bones of the hands. The most likely diagnosis is transient congenital idiopathic hypoparathyroidism, which has not yet been described in association with congenital skeletal anomalies.
D000015:Abnormalities, Multiple; D001842:Bone and Bones / Q000002:abnormalities*; D003025:Clubfoot / Q000150:complications; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D006996:Hypocalcemia / Q000150:complications*; D007223:Infant; D007231:Infant, Newborn; D012640:Seizures / Q000150:complications*; D013576:Syndactyly / Q000150:complications