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A "new" chromosome marker common to the Rett syndrome and infantile autism? The frequency of fragile sites at X p22 in 81 children with infantile autism, childhood psychosis and the Rett syndrome.

Chromosomes from 46 autistic, 20 psychotic and 15 Rett syndrome children were cultured in a folic-acid-depleted medium. Nine percent of the autistic, 20% of the psychotic and 40% of the Rett syndrome cases showed a "new" chromosomal anomaly, viz a fragile site at the (X) (p22) location. It is suggested that in some cases of autism/psychosis and the Rett syndrome, there might be a common biological marker for the common type of psychiatric disturbance. However, as the population frequency of the chromosome marker is not yet known, conclusions must be drawn with great caution.

Adolescent↗

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.

Abnormalities, Multiple↗