[Pathologic anatomy of the Wolf-Hirschhorn syndrome (partial monosomy 4p--)].
An analysis of phenotypic manifestations of Wolf-Hirschhorn syndrome from the 60 cases most thoroughly described in the literature and 3 own observations was done. Most characteristic malformations of this syndrome were shown to include coracoid nose and hypertelorism, coloboma of the eyes, hypospadia, aplasia, hypoplasia and polycystosis of the kidneys, dystopia and dysplasia of the cerebellar gyri, shortening of H2 field of the Ammon's horn with imparied orientation of its neurons, sacral sinus, and retarded bone maturation.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002869:Chromosome Aberrations / Q000473:pathology*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002905:Chromosomes, Human, 4-5; D005124:Eye Abnormalities; D005145:Face / Q000002:abnormalities; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012447:Sacrum / Q000002:abnormalities; D013577:Syndrome
Patologicheskaia anatomiia sindroma Vol'fa-Khirshkhorna (chastichnoĭ monosomii 4p--).