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
Buttross S, Massingale TW, Feingold M. Picture of the Month. Am J Dis Child. 1990;144(4):507–508. doi:10.1001/archpedi.1990.02150280129030
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