The 18 p-syndrome. Report of four cases.
Four children, two girls and two boys, were found to have a short arm deletion of chromosome No. 18. Three of them exhibit a typical dysmorphy of the face showing retraction of the midface, broad-based, flat nose, hypertelorism, epicanthus, "carp mouth", big, protruding, and low set ears, as well as a variable number of Turner-like features, failure of growth, mental retardation, and muscular hypotonia. A newly born child, who died at 2 days of age exhibited severe brain defects of holoprosencephalic series. The clinical and cytogenetic findings are compared with the reviewed data of the 18 p deletion. The hypothesis of "gene-dosis compensation" is discussed in order to explain the variable phenotypical expression of 18 p-syndrome as there is obviously to correlation between the extent of the deficiency and the expression of malformations.
D000015:Abnormalities, Multiple / Q000235:genetics; D001921:Brain / Q000002:abnormalities; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002902:Chromosomes, Human, 16-18; D004392:Dwarfism / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009129:Muscle Tonus; D010641:Phenotype; D013577:Syndrome