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Maxillo-nasal dysostosis is not uncommon as we have noted 34 new cases in eight years. The most characteristic anomalies, well described by Binder, are nasal hypoplasia both of bone and cartilage with agenesis of the nasal spine, as well as a characteristic rearrangement of the naso-labial muscles. On first seeing the patient the disease is generally recognized by the very typical aspect of the nose. There very often exists however other dental, mandibular and cervical spine anomolies. It is indispensable to look for these anomalies in the work up of patients with this malformation syndrome "the naso-maxillo-vertebral syndrome", in order to better understand the disease and better treat the patients.
Data is presented of the post-mortem macroscopic and microscopic examination of two Toy Poodles with multiple enchondromatosis (Ollier syndrome). In both animals opening and maturation disorders of the growth plates were found in several skeletal locations. Due to the dogs' age difference at necropsy (14 and 4 months), some variation was also present in occurrence and appearance of primary and secondary alterations, which gave rise to some conclusions regarding development and progression of the disease. Chondrodysplasia, a characteristic of several breeds, is considered to be the essential factor in the pathogenesis of multiple enchondromatosis in the described cases.
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An 18-year-old intellectually normal male with characteristic features of the Langer-Giedion syndrome is reported. High resolution chromosome analysis showed a small deletion in the region of bands 8q24.11 and 8q24.12 in addition to an apparently balanced de novo translocation (2;9)(q21;q13). This finding provides additional information on the minimum deleted segment required to produce the Langer-Giedion syndrome and may indicate that deletions of this size or smaller are not necessarily associated with mental retardation.