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  • Title: Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family.
    Author: Meinecke P.
    Journal: Genet Couns; 1993; 4(2):147-51. PubMed ID: 8395190.
    Abstract:
    Report on a second family. The patients, an 18-year-old boy and his 15-year-old sister, have pre and postnatal short stature, microcephaly, moderate to severe mental retardation, and cutaneous syndactylies of hands and feet. In addition, they show a mildly dysmorphic but apparently characteristic face. Radiologically, hands and feet demonstrate brachydactyly, metacarpals and metatarsals being the most severely affected. This observation confirms that this multiple congenital anomalies/mental retardation pattern is a distinct, probably autosomal recessively inherited entity.
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