Before the technique of mapping chromosomes was developed, the study of genetics involved recognizing similar patterns of abnormal features of the face, head, body, hands, and feet; of abnormal organ systems; and of atypical development and behavior. Similar patterns of abnormal features are called syndromes, and a syndrome is generally named after the clinician who first described it in the medical literature. Dutch pediatrician Cornelia de Lange described Cornelia de Lange syndrome (CdLS) in 1933. The facial features of children with CdLS often lead clinicians to the diagnosis: thin eyebrows that come together over the bridge of the nose (synophrys), long eyelashes, a short upturned nose, thin lips, and a low lying hairline. Their skin tends to be hairier than most, their head smaller, and ...

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