In 1964, Smith et al described a syndrome of microcephaly, growth and mental retardation, unusual facial appearance, syndactyly of toes 2 and 3, and genital abnormalities. Major structural malformations and early death have been uncommon in the many subsequent literature reports. We report on 19 infants with a phenotype we propose to call Smith-Lemli-Opitz syndrome (SLOS)-Type II, in which major structural abnormalities, male pseudohermaphroditism, and early lethality are common. Of these 19 patients, 18 had postaxial hexadactyly, 16 had congenital heart defect, 13 had cleft palate, and 10 had cataracts. Unusual findings seen in these patients at autopsy included Hirschsprung "disease" in five patients, unilobated lungs in six, large adrenals in four, and pancreatic islet cell hyperplasia in three. Comparison of our cases to 19 similar literature cases suggests the existence of a distinct phenotype that may be separate from SLOS as originally described. It is also inherited as an autosomal recessive, as documented by occurrence in one pair of sibs in this study and recurrence in three reported families.

We report the clinical and chromosomal findings in 8 patients with deletions of the long arm of chromosome 4. Four of these patients appear to have terminal deletions beginning in band 4q31, and therefore, lack the digital 1/3 of the long arm of chromosome 4. We confirm that deletion of 4q31 leads to qter causes a recognizable syndrome, and we further define the phenotype of that syndrome. A 5th patient has a horter terminal deletion, ie, 4q33 leads to qter. This deletion causes a milder phenotypic expression than that seen in the severe 4q terminal-deletion syndrome. The remaining 3 patients have interstitial deletions of the long arm of the 4th chromosome, including segments 4q21.1 leads to q25, 4q21.3 leads to q26, and 4q27 leads to q31.3. The phenotypic expression noted in these patients is variable in differs from the 4q terminal-deletion syndrome.

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Background This project was undertaken as a feasibility study to determine the possibility of screening for fetal alcohol syndrome (FAS) in early school‐age children for epidemiological and interventional purposes. Methods All elementary schools in two counties in Washington State were asked to screen first graders for possible FAS. A child was screen positive if found to be growth deficient, to have certain specific facial abnormalities, or have a known history of substantial alcohol exposure in gestation. All screen‐positive children were invited to “special diagnostic clinics” for final diagnosis and treatment planning. Results In County A, virtually all students were screened. In County B only about 25% of children were screened. This difference was related to the number of schools that agreed to participate in the project and the methods employed by each county to obtain parental permission. In each county, only about one‐half of the screen‐positive children were seen in the special clinics for diagnostic considerations. Only one of the seven children found to have FAS had been diagnosed previously. The minimal prevalence of FAS in County A was 3.1 in 1,000 students. The minimal prevalence of FAS in County B could not be calculated. The most efficient component in the screening process leading to a diagnosis of FAS was finding the specific facial features of the disorder. The diagnosis of FAS was generally helpful in improving educational planning. Conclusions This study demonstrated that population‐based FAS screening within a school system may be possible, but participation is dependent on local trust and understanding of the project before its inception within the schools and the community at large. Teratology 63:3–10, 2001. © 2001 Wiley‐Liss, Inc.