From Big Medical Encyclopedia

RUBINSTAYNA-TEYBI SYNDROME (J. H. Rubinstein, amer. pediatrician, sort. in 1925; H. Taybi, amer. radiologist, sort. in 1919) — a complex of inborn malformations of distal phalanxes of fingers, face bones and a skull, a brain.

Rubinstaynom and Teybi is for the first time described in 1963. Meets very seldom (till 1976 it was known apprx. 100 cases). River — T. the page represents is exogenous caused embryopathy (see), the etiology and a pathogeny a cut are unknown. With an identical frequency occurs at boys and girls.

At survey of the patient the craniofacial dizmorfiya attracts attention: a ptosis, a hypertelorism, a «eagle» nose and the acting partition of a nose, micro and distoclusion (see. Bite ), high sky. Distal phalanxes of thumbs of hands and legs short, wide, flattened. The thumb of a hand cannot be given to a palm. Nails are flattened, sometimes have the form of cups. Also other fingers can be similarly changed. Dermatoglyphics (see) it is characterized by plurality of loops of the skin drawing of thumbs, shortening of a palmar fold. Children considerably lag behind in intellectual development. In cases with a lethal outcome total or partial absence of a kallezny body, morphological structural changes of a cerebral cortex (lack of big and average pyramidal cells, a delay of myelination) is described.

Diagnosis establish on the basis a wedge, manifestations. The karyotype of patients is not changed, specific disbolism is not established. Differential diagnosis is carried out with nek-ry forms mukopolisakharidoz (see), gangliozidoz (see. Glikozidoza ), imperfect bone formation (see. Bone formation imperfect ), Roben's syndrome (see. Robena syndrome ), toxoplasmosis (see)

Treatment and prevention are not developed. From the point of view of medikogenetichesky consultation this syndrome is characterized by low risk of repeated manifestation in a family.

Forecast usually adverse though nek-ry patients are able-bodied.

See also Malformations .

Bibliography: Popescu O. Syndromes in pediatrics, the lane from Romanians., page 325, Bucharest, 1977; Rubinstein J. N and. T and at b i H. Broad thumbs and toes and facial abnormalities, A possible mental retardation syndrome, Amer. J. Dis. Child., v. 105, p. 588, 1963; W i t k o w s k i R. u. P r o k about p O. Genetik erblicher Syndrome und Missbildungen, Stuttgart, 1976.

BB. E. Veltishchev.