What the General Pediatrician Should Know About Developmental Anomalies
John M. Opitz MD1
1 Coordinator of the Shodair-Montana Regional Genetics Program, Shodair Children's Hospital, Helena, MT
It would be a "fallacy of misplaced emphasis" to devote this review only to facts, data, and specific syndromes. A necessary minimum of developmental biology will be presented; however, the main focus will be on method, ie, on effective use of eyes and intellect to learn "phenotype analysis," which is the analysis of normal and abnormal developmental variability.
In spite of the valiant efforts of the late David W. Smith,1 pediatric education on this subject remains handicapped in several major ways:
1. Overemphasis on the metabolic and biochemical aspects of disease and lack of expertise in methods of morphologic analysis by staff and faculty lead to lack of confidence in ability to do a complete physical examination and to interpret structural changes correctly;
2. Excessive preoccupation with the abnormal without encouraging study of the normal frequently results in over-interpretation and misinterpretation of normal variants as minor anomalies and the persistence of that offensive nonentity—"the funny looking kid (FLK)";
3. Lack of instruction in anthropometric methods results in frequent failure to quantitate and to interpret physical traits accurately and leads to such erroneous statements as "height at birth..." (length is meant); "this microcephalic child had large ears" (head is small, ears are normal); "this Down syndrome child had a highly arched palate" (palate height is normal in the Down syndrome, it is length that is mostly severely reduced);
