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Gorlin basal cell nevus syndrome - a rare syndrome that includes pectus excavatum

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4601
Gorlin basal cell nevus syndrome - a rare syndrome that includes pectus excavatum

Other symptoms may also occur in other organ systems. These include skeletal malformations and manifestations in the eyes, soft tissue, central nervous system, and endocrine organs. A review of systems may show congenital anomalies including undescended testes and hydrocephalus and mandibular jaw odontogenic keratocysts, which may be numerous and unilateral or bilateral. There may be defective dentition, bifid or splayed ribs, pectus excavatum, short fourth metacarpal, scoliosis, or kyphosis. Eye lesions include strabismus, hypertelorism, dystopia canthorum, cataracts, glaucoma, and coloboma with blindness. There may be agenesis of the corpus callosum, calcification of the falx cerebri, and medulloblastoma. Intellectual disability is rare. Fibrosarcoma of the jaw, ovarian fibromas, teratomas, and cystadenomas have been reported.