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.
Multiple developmental assessments were made at 4-month intervals over the first year of life for 2 groups of infants born at risk and 1 normal group. The groups included 46 preterm respiratory distress syndrome infants, 46 postterm postmaturity syndrome, and 59 term normal infants. The mothers were white, multiparous, middle-class, high school graduates averaging 25 years of age. Analyses of group differences revealed that the preterm respiratory distress syndrome (RDS) infants continued to exhibit delays in motor and mental development and the postmature infants in mental development. Discriminant function analyses suggesting that the most efficient predictors and accurate discriminators of continuing risk were as follows: the Parmelee obstetric and postnatal complications scores and the Brazelton interactive and motoric process scores at birth; the Denver rating, mother-infant interaction and Carey temperament ratings at 4 months; and the Bayley mental and motor scores at 8 months. On the basis of their weighted assessment scores, infants were assigned a cumulative risk index at each assessment period.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.