Abstract
The 18q− syndrome is an autosomal deletion disorder with variable phenotype. Most patients have a de novo deletion, but in some patients it is inherited. The most frequent disease characteristics include mental retardation, short stature, microcephaly, midface hypoplasia, hypertelorism, epicanthus, carp-shaped mouth, high or cleft palate, preauricular skin tags, narrow or atretic ear canals, conductive hearing deficit, short neck, tapering fingers, clinodactyly, proximal thumbs, prominent finger whorls, widely spaced nipples, congenital heart disease, genital abnormalities, and foot deformities. Mental capacities vary from borderline to severely deficient. Apart from mental retardation, neurological abnormalities include hypotonia, seizures, nystagmus, poor coordination and increasing choreoathetosis.
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© 1995 Springer-Verlag Berlin Heidelberg
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van der Knaap, M.S., Valk, J. (1995). 18q− Syndrome. In: Magnetic Resonance of Myelin, Myelination, and Myelin Disorders. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-03078-3_29
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DOI: https://doi.org/10.1007/978-3-662-03078-3_29
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-662-03080-6
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