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  • Title: Pterygia associated with otomandibular anomalies: a new autosomal recessive condition?
    Author: Williams DK, McKeever P, Barrow M.
    Journal: Clin Dysmorphol; 1997 Apr; 6(2):123-8. PubMed ID: 9134291.
    Abstract:
    We report a male baby with an unusual pattern of malformations comprising severe micrognathia, ear abnormalities and popliteal and elbow webbing. Absence of a single phalanx in the fifth finger of each hand was also noted. Although there is no clear diagnosis there is a history of parental consanguinity and we suggest this may represent a new autosomal recessive disorder.
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