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"Mulibrey" (muscle, liver, brain, eye) nanism, a previously unknown syndrome, probably determined by an autosomal recessive gene, has been described in twenty-three patients aged 4months to 23 years. Growth failure was evident at birth and was progressive. The characteristics are triangular face often with hydrocephaloid skull, gracility and muscular hypotonia, peculiar voice, enlarged liver, raised venous pressure, and yellowish dots and pigment dispersion in ocular fundi. Pericardial constriction seems to be a regular component of the syndrome. Two-thirds of the patients had cutaneous nævi flammei and a third had cystic dysplasia of tibia. The physical capacity and life expectancy seem to vary, depending on the degree of the cardiac lesion. Probably, a proportion of the affected offspring is lost by early abortion or infant death.

The urine from three patients with mannosidosis was found to contain abnormally high amounts of mannose-containing oligosaccharides. The highest yield (123 to 430 mg per liter of urine) was obtained of a trisaccharide, which was isolated and characterized. The isolation procedure included ultrafiltration, gel chromatography on Sephadex G-25, purification by preparative zone electrophoresis, and preparative paper chromatography. Sugar analysis showed that the trisaccharide consisted of 2 d-mannose moieties and 1 2-acetamido-2-deoxy-d-glucose residue. The linkages and sequential order of the sugar units were established by methylation analysis of the reduced trisaccharide. The partially methylated sugars obtained on hydrolysis of the methylated trisaccharide alditol were analyzed by gas-liquid chromatography and mass spectrometry. The anomeric configurations were determined by chromium trioxide oxidation followed by methylation analysis. Additional proof for the anomeric natures of the sugar units was obtained by enzymatic hydrolysis studies and by inhibition experiments using a precipitin system with concanavalin A. As a result of these studies, the structure of the trisaccharide could be established as α-d-mannopyranoside-(1→3)-β-d-mannopyranoside-(1→4)-2-acetamido-2-deoxy-d-glucose. The oligosaccharide is most probably a degradation product derived from the inner core of glycoprotein chains.

Daily painting of the umbilical stump with Betadiner`3 during the stay in the maternity ward reduced the incidence of umbilical infections. In clinical use a tiny rubber ring for closure of the cut umbilical cord proved more practical and cheaper than a clip, the use of the ring in conjunction with painting with Betadiner`accelerated the separation of the stump.

DENOUEMENT AND DISCUSSION ASPARTYLGLUCOSAMINURIA MANIFESTATIONS Major manifestations include mental retardation, coarse facial appearance, decreased elasticity of the skin, hyperextensibility of the joints, and skeletal changes. Manifestations are age-related and usually do not appear before age 4 months, at which time diarrhea, recurrent respiratory infections, and inguinal hernias are present. Mental retardation becomes apparent between ages 1 and 5 years and increases in severity as the child grows older. By 5 years of age there may be a suggestion of coarse facial appearance that becomes more obvious between ages 10 and 15 years. Other findings that may appear between the ages of 5 and 9 years are protuberant abdomen, hyperextensibility of the joints, impaired speech, hypotonia, and increasing clumsiness. Hoarseness of the voice, lens opacities, large tongue, hypogonadism, spasticity of the legs, dysarthric speech, and short stature are usually apparent by age 15 years. The coarse facial characteristics at their fullest

Mulibrey (muscle, liver, brain, eye) nanism is a previously unknown, probably autosomal recessive syndrome of prenatal onset growth failure with involvement of several tissues mostly of mesodermal origin. We've studied 24 patients, 0.3-24 yrs old. On average, the size at birth was 2 SD below mean for gestational age; present height 5 SD below mean for age and sex. General gracility was marked in the children; extremities were significantly short for length of trunk. Face was triangular with prominent forehead and low nasal bridge. Muscles were hypotonic in children. All had characteristic “small” voice. Most had elevated venous pressure and marked enlargement of liver; 6 had oedema and ascites. In contrast, heart was normal in size or only slightly enlarged. This is probably due to pericardial constriction, which has actually been demonstrated in 6 patients, at operation or autopsy. Cerebral ventricles and cisternas were enlarged in the 6, who were appropriately studied. All had characteristic long shallow sella turcica. Hypoplasia of choriocapillaris, pigment dispersion and yellowish dots in ocular fundi were observed in all but one. 7 had fibrous dysplasia of tibia, which had progressed to pseudarthrosis in 3. Most had cutaneous capillary haemangi omas. The 21 propositi had a total of 57 liveborn siblings. Of these, 3 were certainly and 10 probably or possibly affected with mulibrey nanism. In addition, the mothers had had a total of 17 spontaneous abortions.