To determine the recurrence risk for patients with one prior pregnancy affected with neural tube defects (NTD), the authors have pooled data from eight testing centers. In 831 pregnancies studied because one sib was affected with an NTD, the recurrence rate was 3.0%, with 95% confidence limits of 2.0-4.3%, and 99% confidence limits of 1.8-4.8%. The recurrent lesion, whether spina bifida or anencephaly, tended to be concordant with the first to a significant degree. Only 12.2% of recurrent NTD were different from the first, with 95% confidence limits of 4.1-26.2%, and 99% confidence limits of 1.7-30.9%. Both an accurate recurrence risk and the information that a recurrent NTD lesions tends to be concordant with that in the first affected child are useful in the genetic counseling of patients in the United States and in the selection of appropriate prenatal diagnostic studies.

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An infant is reported with partial deletion of the long arm of chromosome no. 7. She presented with hypertonia, seizures, feeding difficulty, and multiple congenital anomalies. The abnormalities include low-set dysplastic ears, hypoplastic orbital bones, upslanting and small palpebral fissures, prominent cheeks with a relatively large mouth, micrognathia, abnormal creases of the hands and a congenital heart defect. With age her hypotonia and feeding difficulty have improved. Her mother has no detectable chromosome abnormality.

Twelve mono‐ and dichloro‐s‐triazinyl dyes were selected to ascertain the vital‐staining characteristics of these dyes, to evaluate the toxicity, and to establish an optimal rate of doseage for use with several animal species. In addition to these dyes (also known in the dye industry as Procion compounds), tetracycline hydrochloride and a hematoporphyrin derivative were also studied. the experimental animals used were mice, rats, rabbits, cats, dogs, and monkeys. The agents were given in a single dose or multiple doses at selected time intervals, after which the experimental animals were sacrificed and the tissue removed for examination. The tissues were examined grossly and with various microscopic methods, and after being placed in clearing solutions for various time periods. The dyes selectively stained bone, dentin, and cementum, which were being formed at the time of administration. Certain dyes have marked advantages over others, not only in staining characteristics but also in toxicity and fluorescence.

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The orbits and, if readily accessible, the facial profile were visualized as part of a brief fetal anatomy survey during approximately 7100 low-risk and high-risk obstetric sonographic examinations. This examination identified 17 facial abnormalities in 11 fetuses. There were seven abnormalities of the eyes, including three instances of absence of both eyes, two of hypertelorism, one of proptosis, and one of relative prominence. There were seven abnormalities of the nose, including three instances of marked flattening, one of absence, one of a proboscis, one of a single nostril, and one of a sunken appearance. There were two abnormally small chins. There was one marked cleft that involved the nose, lip, and palate. At least two fetuses with abnormal faces were missed entirely and coexistent facial abnormalities were missed in another three fetuses. Of the 11 fetuses with facial abnormalities identified, eight had other structural abnormalities as well, and the other three had either polyhydramnios or a history of teratogen exposure. A brief facial examination done as part of the fetal anatomy survey helps to identify abnormalities in high-risk fetuses but is considerably less productive in low-risk fetuses.

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