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In a highly consanguineous, predominantly Cree Indian community in northern Saskatchewan, Canada, 14 similarly malformed babies have been born to eight different mothers since 1953. Six of these infants are reported to assist delineation of the syndrome. The major manifestations of the condition are: Intrauterine growth retardation, perinatal death, marked microcephaly, and severe malformations of the limbs, especially the arms. Elbows are fused, forearms are greatly shortened and usually contain only a single bone, and the hands are very abnormal with only two to four malformed digits. Parental consanguinity, a sex ratio close to one, and a 25% segregation ratio all support autosomal recessive inheritance of this syndrome.

Directors of State and Territorial Public-Health Laboratories have realized for many years that they needed to join together to compare and appraise their operations, identify common problems, and take steps leading to improvement of services provided. Before these objectives could be accomplished, a data base, built from contributions by all the laboratories, was necessary. This article is intended to give a general historical overview of the efforts at data collection and the establishment of a solid data base covering workload and activities of the laboratories which form the Association of State and Territorial Public Health Laboratories. The Consolidated Annual Report (CAR) on State and Territorial Public Health Laboratories--Fiscal Year 1973 is the 10th consecutive report of data concerning these laboratories. The annual issues of the CAR have served as a foundation from which additional documents covering position classification and pay, guide class job specifications, laboratory training activities, and relative values assigned to laboratory tests in measuring costs and workload have evolved over the past decade. Collectively, these documents provide the solid data base available today.

Infantile cortical hyperostosis is a rare proliferative bone disease affecting infants under the age of 6 months. In 1961 a large family of French-Canadian origin in which 14 children in three generations were affected was described. Since then 20 new cases have been found in this family. This is the largest familial aggregation of this disease reported in the literature to date. On the basis of the findings in this pedigree, the familial form of the disease appears to be transmitted by a single autosomal dominant gene with incomplete penetrance and variable expressivity.

A female patient with a gonodal mucinous cystadenoma on the right side and a gonadoblastoma on the left was found to be a 45,X/46,X,dic (Yp) mosaic. This brings the total number of cases with dicentric Y chromosome reported to date to 23. Together with the available evidence, the information derived from this case supports the hypothesis that the gene on the long arm of the Y chromosome is responsible for the initiation of testicular differentiation, whereas that on the short arm is responsible for the maturation of the testes.

The triad or "prune belly" syndrome comprising deficient abdominal muscles, megaloureters with gegacystis and undescended testes has been considered a fairly rare anomaly. The Canadian Province of Saskatchewan appears to have had an unusually high incidence of this condition and it was hoped that epidemiologic investigation of the ten most recent cases might contribute information about the basic etiology of the syndrome. It is suggested that a previously unreported association with monozygotic twinning, apparent in the presently reported series, along with the well-recognized almost exclusive limitation of the syndrome to males, may provide major clues in further investigations of this condition.

Mucolipidosis III (pseudo-Hurler polydystrophy) is an autosomal recessively inherited Hurler-like disorder without mucopolysacchariduria. Previous reports have noted a constellation of laboratory features similar to that described for mucolipidosis II (I-cell disease). Studies were carried out on a series of 15 patients. Twelve were found to have changes in serum and cultured fibroblasts which consisted of marked elevations of several acid hydrolases in serum with low levels of the same enzymes in cultured cells, a marked increase in dense cytoplasmic inclusions and abnormal radioactive sulfate kinetics. The clinical features of these 12 patients comprise a phenotypic entity. Despite clinical similarity, the 3 remaining patients were not felt to represent mucolipidosis III. The basic defect in mucolipidosis III remains unknown, but is suggested that the defect is similar to that of mucolipidosis II, from which it must be distinguished clinically.

The thoracoomphalopagus conjoined twins comprise 75% of all conjoined twins. In the assessment of the organ systems of the twins, the cardiovascular system is important since union of this system in the twins has occurred in 75% of the cases. Of the five cases reported here, two had separate hearts and vessels with a common pericardium only. Two twins were joined at the right atrial level. The fifth pair were connected at both atrial and ventricular levels. It has been suggested that the presence of two separate QRS complexes in the ECG indicates complete separation of the two hearts. Case 4 shows that even in the presence of atrial union, the existence of an atrioventricular block in one twin may produce a very slow heart rate, while the other twin may have a normal rate that will not influence the ventricular rate of the other. In our experience, angiocardiography has been the most useful diagnostic procedure.

Concordance for Goldenhar anomaly has been described in monozygotic (MZ) twins on 2 occasions but never in dizygotic (DZ) twins. In both cases the twins were similarly, although not identically, affected. We report on a pair of probably monozygotic twins (8% probability of DZ) who presented with extremely diverse manifestations of this anomaly complex. One of them required a tracheostomy because of obstructive apnea due to severe micrognathia and subsequently died. This twin had a midline lower lip cleft which has not previously been described in the Goldenhar anomaly.

Three new cases of Sandhoff disease are reported. One infant was the second affected child in a large family. The parents, who were cousins, were part of a large kindred from an isolated community in northern Saskatchewan. We assayed total and heat-stable hexosaminidases in 38 other members of the kindred and found two distinct cohorts. Sixteen individuals had low total and low heat-stable hexosaminidase and were diagnosed as carriers of Sandhoff disease. The values for the remainder were within normal limits. In a retrospective study of data from more than 14,000 Ashkenazi Jews, who were screened for Tay-Sachs disease, six were identified as Sandhoff carriers. Our data indicate that carrier detection requires measurement of both total and heat-stable enzyme activity.

Ever since Sorsby described his pseudoinflammatory dystrophy in five families, its characteristics have been unclear. The findings in ten affected members of a seven-generation pedigree are discussed and the literature is reviewed. Patients with this dominantly inherited fundus dystrophy lose central vision between the second and fourth decade of life. Three variations in the fundus appearances were distinguished: in the first and most common, white to yellow fundus spots (which are not drusen) accompany a disciform macular degeneration; in the second, the fundus spots are absent; in the third, the yellow deposits are associated with atrophic macular degeneration. Atrophy of the retina, pigment epithelium, and choroid then slowly progresses toward the periphery. Treatment does not halt the progress of the disease. Although variations in this dystrophy may be examples of genetic heterogeneity, Sorbsy's fundus dystrophy is a distinct clinical disorder.

Peripheral polyneuritis is not a disease entity but a mystery. The underlying cause should be searched for, but since often it cannot be found, treatment should be started simultaneously with the search. Conservative measures should be tried first-vitamin B complex, niacin, riboflavin, pyridoxine and thiamine chloride; next, injections of liver extract. Then, if no specific condition amenable to treatment has been discovered and if the patient is seriously incapacitated and becoming worse, hospitalization for trial with BAL is indicated.