Walker-Warburg syndrome: report of three affected sibs.

Walker-Warburg syndrome (WWS) is a lethal, autosomal recessive disorder characterized by Type II lissencephaly, retinal malformation, cerebellar malformation, and congenital muscular dystrophy. We report on 3 sibs with WWS born to a consanguineous couple. The fetal hydrocephalus associated with this syndrome, while not consistent or necessary for diagnosis, is the key manifestation for its prenatal detection. These sibs illustrate the importance of a careful search for associated malformation(s) in a fetus or newborn infant with hydrocephalus and the potential pitfalls of accurate genetic risk estimation in families of such propositi.

Fragile X syndrome: incidence, clinical and cytogenetic findings in the black and white populations of South Carolina.

Individuals in South Carolina with the Fragile X [fra(X)] or Martin-Bell syndrome have been ascertained by referral for evaluation of facial abnormalities, macroorchidism or mental deficit; by screening patients in residential and day programs for the mentally retarded; and by family follow up after an index case has been identified. Between 1982 and 1987, 100 positive fra(X) males were diagnosed. Of these, 35 were residents of residential facilities for the mentally retarded representing 2.5% of the population of institutionalized males. Another 23 were found in community day programs for the mentally retarded. Of these 58 cases, 28 (48%) were ascertained by screening for the craniofacial characteristics of the Martin-Bell syndrome, namely long face, midface hypoplasia, prominent forehead, large mandible and large simple pinnae. Although this screening procedure proved to be productive, it was found that the craniofacial traits of long face, midface hypoplasia, large jaw and simple pinnae were found less frequently in black fra(X) positive males and in prepubertal boys of both races.

The effect of fetomaternal bleeding on the risk of adverse pregnancy outcome in patients with elevated second-trimester maternal serum alpha-fetoprotein levels.

OBJECTIVE: Unexplained maternal serum alpha-fetoprotein elevation has been associated with an increased risk of intrauterine growth retardation, preterm delivery, and intrauterine fetal death. The purpose of this study was to determine whether patients with evidence of recent fetomaternal bleeding as a cause of elevated maternal serum alpha-fetoprotein level are at a lower risk for adverse pregnancy outcome than those without such evidence. STUDY DESIGN: Patients with elevated maternal serum alpha-fetoprotein levels who had a singleton viable fetus without ultrasonographically detectable anomalies were offered inclusion in this study. Study participants had blood drawn for fetal cell analysis before amniocentesis. The pregnancy outcomes of patients with evidence of fetomaternal bleeding were compared with those of patients without. RESULTS: Of 229 patients, 109 (47.6%) had evidence of fetomaternal bleeding as a possible cause of elevated maternal serum alpha-fetoprotein. Of these, 86 (78.9%) had a normal pregnancy outcome compared with 84 of 120 (70.0%) with a negative stain for fetal cells (p not significant). There was no significant difference in the incidence of preterm delivery (14 [12.8%] vs 15 [12.5%]), intrauterine growth retardation (5 [4.6%] vs 9 [7.5%]), or intrauterine fetal death (4 [3.7%] vs 8 [6.6%]) when patients with a positive stain for fetal cells were compared with those with a negative stain. CONCLUSION: Among patients with elevated maternal serum alpha-fetoprotein levels, those with evidence of recent fetomaternal bleeding do not appear to be at decreased risk for adverse pregnancy outcome compared with those without such evidence.