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  • Title: A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies.
    Author: Malpuech G, Demeocq F, Palcoux JB, Vanlieferinghen P.
    Journal: Am J Med Genet; 1983 Dec; 16(4):475-80. PubMed ID: 6660246.
    Abstract:
    In four children from the same family, we have observed an association of mental retardation, dwarfism, hypertelorism, facial clefting and urogenital abnormalities. Clinical and laboratory data suggest that it is a previously undescribed genetic syndrome, ie, a pleiotropic autosomal recessive trait.
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