The camptomelic syndrome in two female siblings.
A patient is reported whose only two pregnancies resulted in phenotypically and genotypically female infants with camptomelic syndrome of the long-limbed variety. Both infants died within a few minutes of birth.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D002574:Cervical Vertebrae / Q000002:abnormalities; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005269:Femur / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011859:Radiography; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities