Septo-optic dysplasia (SOD; De CASE REPORTS Case 1A healthy 17 year-old primigravid woman was referred at 29 weeks of gestation on suspicion of fetal holoprosencephaly. Sonographic examination, using an Aloka 5500 (Aloka, Decines Charpieu, France) ultrasound machine equipped with 6-MHz abdominal and transvaginal probes, revealed isolated absence of the septum pellucidum (SP): the lateral ventricles had square fused frontal horns (Figure 1). There was no ventriculomegaly, the thalami were not fused, and the corpus callosum, fornix, anterior cerebral artery and falx cerebri were normal, thus excluding holoprosencephaly (Figure 2). Cerebral gyration appeared normal for gestational age, the Sylvian fissure and callosomarginal, central and temporal sulci all being observed. Fetal MRI confirmed the sonographic findings and showed hypoplasia of the optic chiasma (Figure 3). There was no evidence of cortical dysplasia. The possibility of septo-optic dysplasia (SOD; De Morsier syndrome) was raised and maternal serum and urinary estriol tests were performed, which revealed very low levels. Since estriol arises from placental aromatization of androgens of fetal adrenal origin 1 , these low levels were consistent with the diagnosis of fetal adrenal insufficiency, probably secondary to adrenocorticotropic hormone (ACTH) deficiency and hypopituitarism. These biological results, along with the ultrasound and magnetic resonance imaging (MRI) findings, were consistent with the diagnosis of fetal SOD but the mother refused cordocentesis for further fetal endocrine assessment. Despite counseling about a poor outcome, she did not ask for a termination of pregnancy, which would have been permitted, according to French law, and a full-term 2960-g male infant was delivered. Postnatal investigations ascertained the diagnosis of SOD with hypopituitarism and blindness. The infant had growth hormone, ACTH and thyroid stimulating hormone deficiency. At the time of writing the child was 4 years old, and was developmentally delayed and blind. Case 2A healthy 31 year-old primigravid woman was referred for a first sonogram at 30 weeks of gestation when her pregnancy was discovered. On sonography only the very anterior part of the SP was seen, with no posterior part, the frontal horns being fused at this level (Figure 4). The atrium of the lateral ventricles was 10 mm wide. Holoprosencephaly was ruled out since the corpus callosum was normal in length (37 mm), and the anterior cerebral arteries, the columns of the fornix and the falx cerebri were also normal. The gyration was normal for gestational age. The optic nerves were 3 mm in diameter, which is standard for this gestational age. There was no microcephaly nor dysmorphic features. The

We report on the early prenatal diagnosis of fetal Gaucher disease type 2 by ultrasound examination and beta-glucosidase activity assay on amniocytes from a fetus of 15 weeks' gestation whose first sibling fetus had previously been affected with hydrops fetalis. These cases emphasize the importance of the pathological examination of all fetuses presenting with hydrops fetalis and also stress that minimal and precocious echographic signs can be suggestive of such a lysosomal storage disease.

Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointed chin), microcephaly, hypo/aplasia of the terminal fifth digits, and (sub)normal intelligence. Radiological findings include hypo/aplasia or fusion of the distal phalanges of the fifth finger and toe, brachymesophalangism V, and nail dysplasia or aplasia. One child had cystic adenomatoid disease of the lung. The pattern of anomalies presented by these children closely resembles a syndrome incompletely delineated in 1971 by Senior in six children, which has often been considered to be a mild form of Coffin-Siris syndrome. We suggest that this is an independent entity (BOD syndrome). The aetiology is still unknown. Differential diagnosis and nosological difficulties are discussed. (J Med Genet 1993;30:158-61)

The recent discovery of self-resolving Cryptosporidium infection in immunocompetent patients has aroused growing interest in this parasite, which has thus far been known to affect mainly immunodeficient individuals. Following the hospitalization of two children attending the same day-care center in February 1986 Cryptosporidium oocysts were found in the stools of one of them. This led to an epidemiological investigation to assess the frequency of Cryptosporidium oocysts in the stools of children attending the 7 day-care centers in the city of Poitiers, France. Testing for Cryptosporidium oocysts was performed on formalinized stools, after smear staining by the modified Ziehl-Neelsen procedure. Each positive stool was also submitted to virological and bacteriological examination. Stool specimens from 235 children were studied: 9 (3.8%) of them had Cryptosporidium oocysts in their stools. Four of the children had diarrhea, and 5 (2.2%) were asymptomatic. The existence of healthy carriers should lead to caution in the interpretation of stool parasitology.

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