EDWARDS SYNDROME (J. H. Edwards, sovr. amer. pediatrician; a syndrome) — the hereditary disease caused, as a rule, three - a somiy 18th chromosome and shown multiple malformations of bodies and systems.
It is described in 1960 by Edwards with sotr. According to Taylor (A. I. Taylor, 1968), this disease meets frequency of 1 a case on 6766 live-born. At girls it is observed considerably more often than at boys.
is the Cause of illness existence in all cells of an accessory 18th chromosome — a trisomy 18 (see Chromosomal complement)] more rare — mosaicism (see) and as an exception — a translocation of a chromosome. The nature of a genetic disorder is not studied.
At a pathoanatomical research find malformations of a brain in the form of structural change of olives of a myelencephalon (see), hypoplasias of a cerebellum (see) and a corpus collosum (see). At gistol. a research reveal a heterotopy of pear-shaped neurons in white matter of a cerebellum and the centers of undifferentiated cells in white matter of cerebral hemispheres. At most of patients malformations of heart and large vessels — defect of an interventricular partition, an aplasia of a shutter of the valve of an aorta and (or) a pulmonary trunk, etc. are noted. Inborn defects of digestive organs are observed approximately in half of cases E. page. The incomplete turn of intestines and an atresia of a gullet concern to them Mekkel's diverticulum (see Mekkel a diverticulum), (see) with dominance of fistular forms, the heterotopic sites of a pancreas revealed in a wall of a duodenum or in a wall of a diverticulum of Mekkel, hepatitis, an extrahepatic atresia of channels (see the Liver), an intra hepatic cholestasia (see), proliferation of an epithelium of intra hepatic bilious channels and their obliteration. In lungs changes of quantity of the main furrows and a hypoplasia of fabric almost constantly are found. Malformations of uric system are noted more than at a half of patients and include unions of kidneys (a fused, galetoobrazny or L-shaped kidney); doubling of ureters (see). At gistol. a research in kidneys find glomerular, canalicular cysts, and also the centers of a dysplasia are more rare. At boys in 43% of cases the cryptorchism is noted (see). The hypoplasia of ovaries, delay of maturing of primordialny follicles is found in girls.
Clinically E. the page is shown small (till 2500) is powerful (mass) of the newborn, hmnozhestven-ny anomalies of a structure of the person and a musculoskeletal system. At patients the dolichocephalic shape of a skull (see the Dolichocephalia), stupeneobrazny retraction of frontal bones in a front fontanel, a micrognatia (see Jaws), a hypertelorism (see the Dysostosis), slightly acting glabella (glabel-la) is noted. Auricles are small,
deformed, are usually located low, a lobe, and is frequent and a trestle are absent; outside
acoustical pass is at the level of a corner of a mouth or below, is narrowed, sometimes is absent. The breast is short, mezhreberye are reduced. The muscle hyper tone causes specific position of extremities (they are bent, brought to a trunk,
there is a fleksorny deformation
of fingers of hands). The aplasia of a thumb of brushes and beam bones is sometimes noted. Often anomaly of development of foot takes place: the heel
sharply acts, the arch of foot sags (so-called foot rocking chair), the first fingers of feet are shorter than the others in connection with shortening of the I plusnevy bone. There is a hypoplasia of nails, a dysplasia of hip joints. Spinal hernias and crevices of a lip meet. At patients are observed a ptosis (see), an exophthalmos (see), epikantus (see), mikroftalm (see an Eye), opacification of a cornea, coloboma of a choroid and optic disk (see the Coloboma), an atrophy of disks of optic nerves (see. Optic nerve), hypopigmentation of a pigmental epithelium of a retina. Changes of a dermatoglyphics are noted (see).
The diagnosis is made on the basis a wedge, displays of a disease.
Treatment of a disease is not developed.
Forecast adverse. The most part of patients perishes in the first 6 months of life, about 10% live till 1 year and less than 1% — up to 10 years and more. Are a cause of death in the perinatal period the asphyxia connected with disturbance of blood circulation, aspiration pneumonia and intestinal impassability. Children of advanced age die generally of pneumonia against the background of cardiovascular insufficiency and an infection of uric ways.
Prevention is not developed. Bibliography: Hereditary diseases, under the editorship of L. O. Badalyan, page 386, Tashkent, 1980; Iyedzved M. K., L and-z yu to G. I. and Lurye I. V. Change of the central nervous system at the chromosomal diseases caused by aberrations of autosomes, Arkh. patol., t. 36, No. 7, page 9, 1974; The Teratology of the person, under the editorship of, And. Lazyuka, page 275, M., 1979; Alpert L. I., Strauss L. and. Hirschhorn K. Neonatal hepatitis and biliary atresia associated with trisomy 17-18 syndrome, New Engl. J. Med., v. 280, p. 16, 1969; Edwards J. H. a. o. A new trisomic syndrome, Lancet, v. 1, p. 787, 1960; Taylor A. I. Autosomal trisomy syndromes, J. med. Genet., v. 5, p. 227, 1968.
Yu. A. Knyazev, T. Yu. Knyazeva.