In 1977 Costello described two unrelated children with poor postnatal growth, mental retardation, curly hair, coarse face of similar appearance, and nasal papillomata, suggesting the existence of a previously undescribed syndrome of uncertain familial nature [Costello, Aust Paediatr J 13: 114-118, 1977]. The existence of this syndrome as a separate entity was substantiated several years later by two additional reports by Der Kaloustian et al. [Am J Med Genet 43:678-685, 1991] and Martin and Jones [Am J Med Genet 41:346-349, 1991]. More recently Borochowitz et al. [Am J Med Genet 43:678-685, 1992] described a new "multiple congenital anomalies/mental retardation syndrome with facio-cutaneous-skeletal involvement." Whether this condition should be considered separately from the Costello syndrome is currently a matter of debate. We present three cases, two of whom are sibs, who support the identity of the two syndromes. Our aim is to better redefine the diagnostic criteria, describe the natural history, and confirm the genetic cause of the Costello syndrome, whose pattern of inheritance is most likely autosomal recessive.

Mucopolysaccharidoses (MPS) are lysosomal storage disorders due to impaired glycosaminoglycan degradation. Cardiac involvement is present in most patients with MPS although its clinical impact is still undetermined. Cardiovascular abnormalities were evaluated in 39 patients with MPS aged 4–22 years. Valvular lesions and different forms of cardiac involvement were detected. The most common lesion was thickening of the mitral valve with regurgitation or stenosis, regardless of the MPS type. Mitral valve thickening was observed in 23 patients, aortic valve thickening in 11 patients and congestive heart failure in only 1 patient with MPS III. The most severe changes were registered for MPS types I and II. Complete cardiological investigation should be routinely warranted in every patient inflicted with MPS.

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Basal serum levels of prolactin (PRL) in 21 nursing mothers were measured by radioimmunoassay on the 2nd, 3rd and 4th days of the puerperium. The quantity of breast milk suckled during the 4th day of life was also evaluated by calculating the difference in the baby’s weight before and after each feeding. During the first postpartum days, mean basal levels of PRL did not change. However these levels were noted to be significantly lower in the multiparas (p < 0.05) than in the primiparas. In addition, the milk intake in neonates of multiparous mothers was significantly greater (p < 0.05) than that in neonates of primiparous mothers. The authors’ hypothesis, based on the results of animal experimentation described in the literature, is that initiation of breast-feeding is facilitated in multiparas by the increased number of occupied PRL receptors in the mammary glands reflected by the lowered serum levels of the hormone.

A study on the frequency of birth defects was conducted in the area around Seveso, Italy, which was contaminated by 2,3,7,8-tetrachlorodibenzo-p-dioxin in July 1976; this has been the largest population ever exposed to dioxin. From Jan 1, 1977, to Dec 31, 1982, a total of 15,291 births (still and live) were examined, and malformations were reported to an ad hoc birth defects registry. In the most highly contaminated area, 26 births were observed. None of these infants had any major structural defect. Two infants had mild defects. The frequencies of major defects detected in the areas of low or very low contamination were 29.9/1000 and 22.1/1000, respectively. A frequency of 27.7/1000 was registered in the control area. Relative risks were calculated for specific categories of birth defects and for grouped malformations. Although the data collected failed to demonstrate any increased risk of birth defects associated with 2,3,7,8-tetrachlorodibenzo-p-dioxin, the number of exposed pregnancies was not big enough to show a low and specific teratogenic risk increase.