Abstract Denouement and Discussion Trisomy 8/Mosaic Syndrome Facial features of trisomy 8/mosaic syndrome consist of a prominent forehead, elongated face, broad nasal bridge, deep-set eyes, abnormally shaped ears with a large auricle and prominent anthelix, thick everted lips, high-arched palate, and micrognathia. The neck may be short, and the trunk is usually long and narrow. Various skeletal malformations are present, including kyphoscoliosis, supernumerary vertebrae and/or ribs, and an abnormally shaped chest. Hand abnormalities consist of brachydactyly, clinodactyly, and camptodactyly. Contractures and the absence of patellae have also been reported. Deep palmar and plantar skin furrows are present during infancy. Cryptorchidism and testicular hypoplasia also occur. Varying degrees of References 1. Barry AC, Mutton DE, Lewis DGM. Mosaicism and the trisomy 8 syndrome . Clin Genet . 1978;14:105-114.Crossref 2. Fineman RM, Ablow RC, Brigg WR, et al. Complete and partial trisomy of different segments of chromosome 8: case reports and review . Clin Genet . 1979;16:390-398.Crossref 3. Grouchy J, Turleau C. Clinical Atlas of Human Chromosomes . New York, NY: John Wiley & Sons Inc; 1984:126-133.
American Journal of Diseases of Children – American Medical Association
Published: Apr 1, 1990