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- W3151404214 abstract "The main clinical features of RTS are facial dysmorphism, broad thumbs, broad big toes, and growth and mental retardation. The facial appearance is different in the newborn, but the most striking facial features in childhood include microcephaly, downslanting palpebral fissures, prominent and beaked nose with low nasal septum, highly arched palate, and mild micrognathia. Broad thumbs and broad halluces are present in almost all cases. Other extremities abnormalities include angulation deformities of the thumbs and halluces, broad distal phalanges of other fingers, clinodactyly of the 5th finger, persistent fetal fingertip pads and overlapping toes. Growth retardation is generally marked during infancy with feeding problems, and with a tendency to overweight in later childhood and adulthood. Constipation, recurrent upper respiratory infections and conjunctivitis are frequent problems in infancy. Retarded motor and mental development become apparent in the first year of life. The average IQ of the patients is between 35 and 50, but some patients may have a better outcome. The performal IQ is higher than the verbal IQ. Other findings may include eye abnormalities (tear duct obstruction, ptosis, strabismus, glaucoma, coloboma, cataract, refractive error), congenital heart defects (PDA, VSD, ASD), urinary tract malformations, specific dental abnormalities, epilepsy, and skin features (naevus flammeus, hirsutism, keloid scarring)." @default.
- W3151404214 created "2021-04-13" @default.
- W3151404214 creator A5081642866 @default.
- W3151404214 date "2011-01-01" @default.
- W3151404214 modified "2023-09-27" @default.
- W3151404214 title "Rubinstein-Taybi syndrome (RTS)" @default.
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