Setleis (bitemporal 'forceps marks') syndrome in a German family: evidence for autosomal dominant inheritance.
The Setleis syndrome is a rare disorder characterized by predominantly facial findings, including bitemporal skin changes resembling forceps marks. Autosomal recessive inheritance of this distinct condition has been proposed. We report on a typically affected German boy whose father shows a much milder expression, thus suggesting autosomal dominant inheritance.
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Institut für Humangenetik, Medizinische Universität Lübeck, Germany.
Schwinger
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Meinecke
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D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005138:Eyebrows / Q000002:abnormalities; D005140:Eyelashes / Q000002:abnormalities; D005145:Face / Q000002:abnormalities*; D005799:Genes, Dominant; D005858:Germany; D006801:Humans; D007223:Infant; D008297:Male; D009056:Mouth Abnormalities / Q000235:genetics*; D013577:Syndrome