The case of a seven and a half-year-old girl with hyperglycinuria, oxalate nephrolithiasis, and a normal plasma amino acid pattern is presented. Hyperglycinuria amounted to 400 mg of glycine in 24 h urine and the stone was composed of calcium oxalate dihydrate. The metabolic relationship between glycine and oxalate is discussed. It is possible that the association of nephrolithiasis and hyperglycinuria was coincidental, although the case of familial hyperglycinuria with nephrolithiasis reported by De Vries and collaborators and our case suggest the possibility of a relationship between the aforesaid compounds in vivo.

The Aarskog syndrome is characterized by short stature, peculiar facies, shawl scrotum, cryptorchism, broad, short hands and hyperextensibility of the proximal interphalangeal joints. A boy with typical features of the Aarskog syndrome is presented. The proband's mother, sister and grandmother were short and strongly resembled him. Palmar dermatoglyphics showed the presence of whorls in the interdigital areas of the affected mother and son and the absence of this pattern on the palms of the sister.

The cause of a seventeen-year-old female patient with septo-optic dysplasia and pituitary dwarfism is presented. Mental retardatin and epilepsy, in addition to absence of the septum pellucidum, point to a widespread lesion of the central nervous system. There is unilateral hypoplasia of the optic nerve. She is of small stature. The dynamic pituitary tests point to deficiency of GH, TSH and ACTH, and an adequate reserve of prolactin, gonadotropins and vasopressin. TSH insufficiency is probably of primary pituitary origin.

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