Lacrimo-Auriculo-Dento-Digital syndrome: Evidence for lower limb involvement and severe congenital renal anomalies

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, telec...

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Veröffentlicht in:American journal of medical genetics 1992-08, Vol.43 (6), p.932-937
Hauptverfasser: Bamforth, J. Stephen, Kaurah, Pardeep
Format: Artikel
Sprache:eng
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Zusammenfassung: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. © 1992 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320430605