Ablepharon-macrostomia syndrome: first report of familial occurrence.

@article{Ferraz2000AblepharonmacrostomiaSF,
  title={Ablepharon-macrostomia syndrome: first report of familial occurrence.},
  author={Victor E F Ferraz and D{\'e}bora Gusm{\~a}o Melo and Susanne E. Hansing and A A Cruz and Jo{\~a}o Monteiro de Pina-Neto},
  journal={American journal of medical genetics},
  year={2000},
  volume={94 4},
  pages={
          281-3
        }
}
Ablepharon-macrostomia syndrome (AMS) is a rare condition comprising severe deficiency of the anterior lamella of both eyelids, abnormal ears, macrostomia, anomalous genitalia, redundant skin, and absence of lanugo. There is no agreement about cause; some authors suggest autosomal recessive inheritance. We describe familial occurrence of AMS in a girl, sister of a previously reported patient. The father has facial anomalies that suggest autosomal dominant inheritance. Am. J. Med. Genet. 94:281… CONTINUE READING

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