The Linnean tercentenary is a most welcome opportunity to celebrate the complimentary contributions of the molecular taxonomists and the morphologists in establishing a “natural order” of living organisms depending on degree of relatedness and the 70th anniversary of birth of our friend and colleague, M. Michael Cohen Jr. These events lead one to reflect on the relationship between evolution and normal, respectively abnormal development. In part due to Mike Cohen's efforts, such reflections will at last also creep into the clinic given that more and more malformations are understood ontogenetically and phylogenetically on the basis of homology in structure, development and genetic basis in more or less closely related organisms. It is inconceivable how such an understanding can allow anyone to deny the reality of evolution and its implications for the antiquity of the earth, and its biosphere and the vulnerability of all species, humans included, for extinction. © 2007 Wiley‐Liss, Inc.

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Terminological inexactitude

Barr,, Mason

2008 American Journal of Medical Genetics Part A

doi: 10.1002/ajmg.a.31972pmid: 17963259

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Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?

Moog, Ute; Roelens, Filip; Mortier, Geert R.; Sijstermans, Han; Kelly, Mary; Cox, Gerald F.; Robson, Caroline D.; Kimonis, Virginia E.

2008 American Journal of Medical Genetics Part A

doi: 10.1002/ajmg.a.31957pmid: 18000896

Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies, mainly choristomas; by skin lesions consisting of hairless fatty tissue nevi (nevus psiloliparus), focal dermal hypoplasia, alopecia, and periocular skin tags; and by CNS anomalies, including intracranial and spinal lipomas and often mental retardation and seizures. Here, we report on three boys with ECCL with typical abnormalities of the eyes, skin and brain and, in addition, coarctation of the aorta. All three children developed multiple cystic bone lesions, which progressively spread throughout the skeleton in Patient 1 and was shown histologically to be non‐ossifying fibromas in Patient 2. We hypothesize that ECCL may be caused by mosaicism for a mutated gene involved in benign mesenchymal tumors and in vasculogenesis. © 2007 Wiley‐Liss, Inc.

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Muenke syndrome (FGFR3‐related craniosynostosis): Expansion of the phenotype and review of the literature

Doherty, Emily S.; Lacbawan, Felicitas; Hadley, Donald W.; Brewer, Carmen; Zalewski, Christopher; Kim, H. Jeff; Solomon, Beth; Rosenbaum, Kenneth; Domingo, Demetrio L.; Hart, Thomas C.; Brooks, Brian P.; Immken, LaDonna; Lowry, R. Brian; Kimonis, Virginia; Shanske, Alan L.;

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Nature Genetics Nucleic Acids Research Genetics Annual Review of Genetics Genomics Mammalian Genome Chromosome Research Journal of Genetics Russian Journal of Genetics

Jehee, Fernanda Sarquis;

Bueno, Maria Rita Passos;

Knightly, Carol;

McDonald‐McGinn, Donna;

Zackai, Elaine H.;

Muenke, Maximilian

2008 American Journal of Medical Genetics Part A

doi: 10.1002/ajmg.a.32078pmid: 18000976

Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the Pro250Arg mutation in the FGFR3 gene. Reduced penetrance and variable expressivity contribute to the wide spectrum of clinical findings in Muenke syndrome. To better define the clinical features of this syndrome, we initiated a study of the natural history of Muenke syndrome. To date, we have conducted a standardized evaluation of nine patients with a confirmed Pro250Arg mutation in FGFR3. We reviewed audiograms from an additional 13 patients with Muenke syndrome. A majority of the patients (95%) demonstrated a mild‐to‐moderate, low frequency sensorineural hearing loss. This pattern of hearing loss was not previously recognized as characteristic of Muenke syndrome. We also report on feeding and swallowing difficulties in children with Muenke syndrome. Combining 312 reported cases of Muenke syndrome with data from the nine NIH patients, we found that females with the Pro250Arg mutation were significantly more likely to be reported with craniosynostosis than males (P < 0.01). Based on our findings, we propose that the clinical management should include audiometric and developmental assessment in addition to standard clinical care and appropriate genetic counseling. Published 2007 Wiley‐Liss, Inc.