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We report three sisters with ovarian dysgenesis; all three and two of their otherwise apparently normal brothers also had moderate to severe sensorineural deafness. Three similarly affected sibships are known, and the total of 14 affected patients includes three males with deafness without gonadal defect, one woman with ovarian dysgenesis without deafness, and ten women with ovarian dysgenesis and deafness. In two families parental consanguinity is known. We conclude that this condition, which we propose to designate the Perrault syndrome, is an uncommon autosomal recessive trait with obligatory ovarian dysgenesis in female homozygotes and facultative deafness in male and female homozygotes. Right bundle branch block and mental retardation may possibly be additional, less common pleiotrophic manifestations.

We report the case of a boy with the Johanson-Blizzard syndrome who died at the age of 8 years with complications of pancreatic exocrine insufficiency, and at autopsy was found to have a small thyroid filled with colloid, virtually complete replacement of the pancreas with adipose tissue, and a brain of normal size but with evidence of a cortical developmental defect consisting of abnormalities of gyral formation and of cortical neuronal organization. In addition the boy had postnatal growth failure, apparent severe mental retardation, congenital scalp defects and scalp hair patterning abnormalities, aplasia of the nasal alae, nasolacrimo-cutaneous fistulae, hypotonia, severe congenital sensorineural deafness, and small conical and widely spaced teeth. Evidence is accumulating that this syndrome is likely to be inherited as an autosomal recessive disorder. Our case represents the first report of autopsy findings in the syndrome.

On the basis of studies in two brothers and their double first cousin, the Kallman syndrome (KS) is discussed as an X‐linked syndrome of anosmic hypogonadotropic hypo‐gonadism. The anosmia is thought to represent agenesis or hypoplasia of the olfactory lobes, the mildest form of the alobar holoprosencephaly developmental field defect; this is supported by the finding of hypotelorism in two of the patients and their mother. The endocrine defect is thought to represent a hypothalamic abnormality of the luteinizing hormone releasing hormone; borderline normal intelligence may represent another pleio‐tropic CNS manifestation of the KS gene. All three affected males had unilateral renal aplasia, associated in one with ipsilateral abyence of the testis. The presence of at least two developmental field defects (involving the CNS and urogenital system) makes it likely that the KS is a true multiple congenital anomaly syndrome; this is supported by the finding of additional, mostly minor, anomalies reported by other investigators. Heterozygous females may also show manifestations of anosmia, hypogonadism, possibly even internal genital malformation; however, genetic heterogeneity of anosmic hypogonadism is pos?ible, and for the time being it is probably better to designate sporadic female cases of anosmic hypogonadism as examples of the olfacto‐genital syndrome of DeMorsier. Linkage studies are urgently needed to clear up the question of genetic heterogeneity and to help develop empiric recurrence risk figures in anosmic hypogonadism.

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