PubMed Health⌕ Search

PubMed · 16353245

Meckel on developmental pathology.

Abstract

Before Schleiden and Schwann, Darwin and Mendel there passed briefly a towering giant, Johann Friedrich Meckel the Younger (1781-1833), now glimpsed only fleetingly and obscurely through the mist of time and former controversies, who can nowadays easily and clearly be identified as the father of a "pre-modern" developmental biology. At his beginning this prodigiously gifted physician-scholar had, as one would say nowadays, an unfair advantage, his cradle having been rocked, as it were, by the preparators in his father's and grandfather's huge collection of normal and abnormal anatomical "specimens" in the home in which he was born and raised including his father's own skeleton (with two anatomical anomalies!). Initially reluctant to follow in the steps of his illustrious anatomist/physician grandfather and father, he nevertheless early demonstrated extraordinary gifts in anatomy and zootomy. Napoleon's conquest of his homeland notwithstanding, Meckel spent at least 2 extremely fruitful years in Paris, under the tutelage of Cuvier, but also in close contact with Geoffroy St. Hilaire (Etienne), Lamarck, and von Humboldt. He not only translated Cuvier's Leçons d'anatomie comparée into German but also greatly enriched this pivotal treatise with observations of embryonic and malformed fetuses and animals only of passing interest to his mentor. In his numerous publications, Meckel was the first to relate abnormal to normal development, define anomalies of incomplete differentiation (vestigia), but, most importantly, to relate those malformations known in humans to those that are normal adult developmental states in "lower" animals (atavisms). Thus, Meckel's three-fold parallelism of the scala naturae, normal ontogeny, and the malformations in humans and animals makes him a recapitulationist par excellence, however, without ever venturing into a fully articulated and explicit theory of descent. Today Meckel is remembered solely as the discoverer of the syndrome and cartilage named after him, and as having interpreted, correctly, the developmental nature of the "Meckel" diverticulum. It is virtually unknown that Meckel also first enuntiated the concept and distinction between primary and secondary malformations/anomalies, introduced the notion of heredity into the causal analysis of congenital anomalies, was the father of syndromology (the Meckel syndrome), had a clear understanding of pleiotropy and heterogeneity, and can unequivocally be regarded as the father of developmental pathology. In hindsight, and inspite of much professional success, Meckel emerges as a tragic figure in the history of biology, his life cut short at 52 without an ability to incorporate cell theory and the embryological insights of his younger contemporaries into his intellectual edifice which might have made it possible for him to finally and clearly see "analogy" (now homology), of which he was the greatest expert in his era, as incontrovertible evidence for descent. In that case, Darwin and Haeckel might have even had the courtesy of a tip-of-the-hat in Meckel's direction.

Explore related subjects

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

John M Opitz, Rüdiger Schultka, Luminita Göbbel. 2006-01-15. Meckel on developmental pathology.. https://doi.org/10.1002/ajmg.a.31043

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

De novo proximal duplication of 1(q12q22) in a female infant with multiple congenital anomalies.

Reports of small proximal 1q duplications are rare. We report a 1 month-old female who was referred to clinic because she was believed to have features suggestive of Turner syndrome. The patient's dysmorphic features included a prominent nose, low-set and crumpled ears, slightly high palate, short neck, high-pitched cry, mild micrognathia, hypoplastic labia majora, and somewhat deep palmar creases. Traditional G-band chromosome studies of the patient were interpreted as 46,XX,dup(1)(q12q21). To further evaluate the extent of the chromosome 1 duplication, Spectral Karyotyping and a series of six fluorescence in situ hybridization (FISH) probes were utilized. The FISH probes refined the extent of the duplication to involve the region 1(q12q22) indicating the duplicated segment was larger than interpreted by the G-banding studies. This first case of non-mosaic proximal duplication of 1q to be characterized by multiple locus specific FISH probes should allow a more refined delineation of the phenotypic findings and clinical significance associated with this rare chromosomal duplication.

Abnormalities, Multiple↗

Long-term follow-up of a 26-year-old male with duplication of 16p: clinical report and review.

We report on a 26-year-old male with profound psychomotor retardation and a pattern of dysmorphic features and malformations characteristic for duplication of the short arm of chromosome 16. He has an elongated face, sparse hair, upslanting palpebral fissures, anteverted nostrils, hypoplastic thumbs on both hands, and dislocation of several joints. His chromosome aberration was diagnosed at birth and was due to an unbalanced segregation of a maternal translocation t(2;16)(q36;p11). At 26 years of age he is, to the best of our knowledge, the oldest patient with duplication of 16p reported to date. We present a long-term observation of growth, psychomotor development, dysmorphic features and evolution of his skeletal and joint defects as well as a review of the literature.

Abnormalities, Multiple↗