The infant neurodevelopmental assessement: a clinical interpretive manual for CAT-CLAMS in the first Two years of life, part 2

Abstract

Summary The above evaluation for minor dysmorphic features might perhaps be referred to as medical or scientific physiognomy. Physiognomy was never supposed to be limited to the study of the face, but in its better versions includes the face, the palms, the somatotype, as well as the gait and other movement patterns. Medical physiognomy therefore approximates the modern approach to syndrome identification but remains somewhat broader. The above and similar dysmorphic features may contribute to the identification of a specific chromosomal, genetic, or teratogenic syndrome diagnosis. However, the presence of several (usually taken as more than 3 or 4) of these minor malformations in the absence of a specific syndrome still suggests either a genetic influence (perhaps a constellation of familial features) or some adverse impact on the developing fetus occurring in the first trimester. The absence of a syndrome and the presence of a familial pattern of dysmorphology does not rule out an association with developmental disorders; rather they recommend a more in-depth review of the family history for the presence of subtle developmental abnormalities. In the presence of a developmental diagnosis, dysmorphic features support the need for a more detailed genetic investigation and strongly favor a prenatal as opposed to postnatal cause for the disorder. With a suspicious but nondiagnostic developmental delay, the presence of dysmorphic features favors increasing the seriousness with which an otherwise mild degree of delay is interpreted.