The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness.

نویسندگان

  • J G Hall
  • H Herrod
چکیده

The Stickler syndrome is a newly recognized, but probably relatively frequent inherited generalized connective tissue disorder involving skeleton, eye, and oro-facial structures. A family with three affected generations is discussed. Severe myopia leading to blindness, cleft palate, or subnucous cleft, Pierre Robin anomaly, premature degenerative arthritis, or a family history of any of these indicates further evaluation.

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عنوان ژورنال:
  • Journal of medical genetics

دوره 12 4  شماره 

صفحات  -

تاریخ انتشار 1975