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  • Title: Lacrimo-auriculo-dento-digital syndrome: evidence for lower limb involvement and severe congenital renal anomalies.
    Author: Bamforth JS, Kaurah P.
    Journal: Am J Med Genet; 1992 Aug 01; 43(6):932-7. PubMed ID: 1415342.
    Abstract:
    We describe a 3-generation family with lacrimo-auriculo-dento-digital syndrome (LADD). In addition to the well described abnormalities of ears, teeth, lacrimal apparatus and digits, the patients exhibit several previously undescribed anomalies, including minor facial anomalies (broad forehead, telecanthus, bulbous nasal tip, full jaw, ptosis and flared nostrils), involvement of the first and second toes, and congenital renal disease causing death in the neonatal period in 2 cases.
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