Uncombable Hair (Pili Trianguli Et Canaliculi): Evidence for Dominant Inheritance with Complete Penetrance Based on Scanning Electron Microscopy

    September 1987 in “ American Journal of Medical Genetics
    Adelaide A. Hebert, Joel Charrow, Nancy B. Esterly, David F. Fretzin, John M. Opitz, James F. Reynolds
    TLDR Uncombable hair is inherited dominantly with complete penetrance.
    The study focused on uncombable hair syndrome, also known as pili trianguli et canaliculi, which is characterized by hair that is difficult to manage and has a unique appearance under scanning electron microscopy. This condition was typically abnormal in infancy and childhood but could normalize later in life. While previous cases were mostly sporadic, this study provided evidence of dominant inheritance with complete penetrance. The researchers documented the condition in a young girl, her brother, and their father, with scanning electron microscopy confirming the characteristic hair morphology in all three, despite the father appearing normal and denying any history of hair abnormality.
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