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A dominantly inherited syndrome of myopia with hyaloidopathy, retinal detachment, cleft palate and flattening of the midface is described. The finding of genua valga, hip joint deformity, hypospadias and mental retardation noted in a few cases suggests that this may be a more complex dysmorphogenetic syndrome than is currently evident. It is not known at the present time whether hereditary progressive arthro-ophthalmopathy (Stickler syndrome) and the Cervenka syndrome are identical or different formal genesis syndromes.

Addition of lysergic acid diethylamide to cultured human leukocytes resulted in a marked increase of chromosomal abnormalities. The distribution of chromosome breaks deviated significantly from random, with an accumulation of aberrations in chromosome No. 1. Cytogenetic investigation of a patient extensively treated with this drug over a 4-year period for paranoid schizophrenia showed a similar increase in chromosomal damage.

Holoprosencephaly is frequently associated with facial dysmorphia and together these anomalies constitute a single developmental field. Because the abnormalities within this field represent a spectrum and because they may be associated with various patterned groups of extracephalic anomalies, they should not usually be considered a disorder sui generis, but a "symptom-complex" which may occur in a variety of disorders. Etiologic heterogeneity is a sine qua non of holoprosencephaly with facial dysmorphia. At the present time it is not known how many distinct formal genesis syndromes with holoprosencephaly and facial dysmorphia may exist for reasons cited in this paper. However, three distinct causal genesis syndromes (trisomy 13 syndrome, 18p- syndrome and Dq- syndrome) are known to occur. An autosomal recessive form also seems likely. Cytogenetic findings and various genetic possibilities are discussed. A pathogenetic hypothesis is presented in which holoprosencephaly with severe facial dysmorphia (synophthalmia or ocular hypotelorism, proboscis formation) is thought to arise from faulty embryonic interaction between the cephalic tip of the notochordal plate, the neuroectoderm of the brain plate and the oral plate.