Syndrome of "cat's shout"
Contents:
Description:
In 1963 J. Le Jeune described the syndrome caused by chromosome mutation (deletion) of a short shoulder of the fifth chromosome.
Frequency this pathology among newborns makes 1:50000. A ratio of floors among newborns 1:1,6, i.e. girls prevail.
Syndrome symptoms of "cat's shout":
The main phenotypical signs of a syndrome are low body weight at the birth (on average about 2600), a nanocephalia, a round, "crescent-shaped" face in the first years of life and the narrow person at more advanced age, an anti-Mongoloid section of eyes, an epikant, a hypertelorism, squint, a cataract, the retina depigmentation centers, an atrophy of optic nerves, a flat ridge of the nose, the high sky, at a part of patients with a crevice, microdistoclusion. Auricles are deformed and located below usual, sometimes with a preaurikulyarny hollow. Defects of a musculoskeletal system are quite often noted: clinodactyly of little fingers of hands, syndactylias of toes, clubfoot, hypomyotonia, discrepancy of muscles of a stomach, umbilical and inguinal hernias.
Pathognomonic symptom is the peculiar shout at the birth reminding shout of a cat. It is present at children of the first year of life and is connected both with disturbance of activity of TsNS, and with changes of a throat (reduction of an epiglottis, narrowing of a throat, puffiness of a mucous membrane).
At a syndrome 5r-deep mental retardation (a deficiency of intellect and an idiocy), a deep underdevelopment of the speech, the expressed delay of physical and motor development, paresis of extremities is usually noted.
Clinical signs at a syndrome of "cat's shout"
Diagnosis:
The Dermatoglifichesky picture at a syndrome of "cat's shout" of specific characters has no though a number of changes is noted: cross palmar fold, distal arrangement of a triradius.
At pathoanatomical researches find a diffusion atrophy of a brain, cerebellum, hydrocephaly, is more rare – heart diseases, kidneys, lungs, a thymus gland dysplasia.
Monosomy on a long shoulder and partial trisomies of a chromosome 5 have less accurate symptom complexes.
Intellectual defect is considerably more expressed at a partial monosomy on a long shoulder, than at partial trisomies.
Treatment of the Syndrome of "cat's shout":
As well as at other chromosomal diseases, at a syndrome of "cat's shout" there is no specific pathogenetic treatment. The forecast concerning life at partial trisomies and monosomies of a chromosome 5 depends on expressiveness of symptoms, many patients live up to teenage age.
