Tom bird neurogeneticist1/27/2024 ![]() Clinical geneticists and pediatriciansĪre usually those most closely involved with the identification and description of dysmorphic features, as most are apparent during childhood.ĭysmorphic features can vary from isolated, mild anomalies such as clinodactyly or synophrys to severe congenital anomalies, such as heart defects and holoprosencephaly. One of the key challenges in identifying and describing dysmorphic features is the use and understanding of specific terms between different individuals. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature. ![]() It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome or birth defect. ![]() Abnormal difference in body structure Multiple dysmorphic features in a patient with Pitt–Rogers–Danks syndrome: microcephalia, micrognathia and protrusion of the eyeballsĪ dysmorphic feature is an abnormal difference in body structure.
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