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A new electronic medical nomenclature
- Computer Science, Medicine
- Journal of Medical Systems
The author presents the complex scientific and technical foundation of the recently completed biomedical nomenclature, which places all the terms into a single hierarchical order, rendering medical terminology computer-compatible. Expand
Syndromic foramina parietalia permagna.
- American journal of medical genetics
We report on a boy with unique somatic and skeletal manifestations. The syndrome consists of branchial and auricular fistulae, abnormal face, and skeletal abnormalities including foramina parietalia… Expand
A new autosomal dominant acrofacial dysostosis syndrome.
- Biology, Medicine
- American journal of medical genetics. Supplement
We report on a family in which a previously undescribed acrofacial dysostosis syndrome is segregating as an autosomal dominant trait. Craniofacial manifestations are those of mild mandibulofacial… Expand
Informative Morphogenetic Variants
The term ‘minor congenital anomalies’ appears to have achieved popularity following its use in a publication by D. W. Smith and his colleagues of the results of a 2-year cohort of 4412 infants examined externally on the first or second postnatal day. Expand
Numerical taxonomy in the study of birth defects
The idea of classification is intrinsic to man, stemming from the time when it was vital to recognize plants as food or non-food, animals as fierce or non-fierce, but increasing knowledge especially… Expand
Terminological, diagnostic, nosological, and anatomical-developmental aspects of developmental defects in man.
- Biology, Medicine
- Advances in human genetics
Man’s experience of congenital malformations antedates recorded history and can be inferred from philology and the most ancient of legends, meaning that even during phylogeny man lived side by side with mammalian cousins affected with homologous forms of his own genetic aberrations. Expand