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Four patients with diabetes mellitus, optic atrophy, and high-frequency neurosensory hearing loss, two of whom also had diabetes insipidus, are described. The frequency of this syndrome among patients with juvenile diabetes appears to be between 1/148 and 1/175. Because of the progressive nature of the disabilities and the autosomal recessive mode of inheritance, careful monitoring of all juvenile diabetic patients for other signs of the syndrome is warranted.

Prominent physical features of the Aarskog syndrome are short stature, telecanthus, ptosis, short broad nose, long philtrum, thin upper vermilion border and pouty lower lip, low-set jug-handle ears, short broad hands with clawlike positioning of the fingers, broad feet with bulbous toes, ventral scrotal folds, cryptorchidism, and hernias. Four families with 20 affected males are reported. Pedigree analysis is compatible with X-linked recessive inheritance with occasional partial expression in heterozygote females. The fact that seven sons, all unaffected, have been born to affected males argues against the alternative hypothesis of autosomal sex-influenced inheritance.

A boy with faciodigital malformations is reported who bears a striking resemblance to Charlie M, a patient described by Gorlin as representing a new syndrome, and to two other previously reported patients. One may interpret this as supporting the validity of the "Charlie M" syndrome as a nosologic entity. However, these patients share a number of features with several other face-limb malformation syndromes. We suggest that these syndromes form a "community," in which the overlapping phenotypes of the member syndromes reflect underlying developmental relationships.