Clinical Neuroscience

[Minor physical anomalies in autism]

TÉNYI Tamás, JEGES Sára, HALMAI Tamás, CSÁBI Györgyi

JULY 30, 2013

Clinical Neuroscience - 2013;66(07-08)

[Background and purpose - Minor physical anomalies are mild, clinically and cosmetically insignificant errors of morphogenesis which have a prenatal origin and may bear major informational value for diagnostic, prognostic and epidemiological purposes. Since both the central nervous system and the skin are derived from the same ectodermal tissue in utero, minor physical anomalies can be external markers of abnormal brain development and they appear more commonly in neurodevelopmental disorders. In a recently published meta-analysis Ozgen et al. have published the results of seven studies - all have used the Waldrop Scale which contains 18 minor physical anomalies - and reported on the higher prevalence of minor physical anomalies among patients with autism. There are only a very few data on the individual analysis of the prevalence of minor physical anomalies in autism. Methods - In our study we have studied the prevalence of 57 minor physical anomalies in 20 patients with autism and in 20 matched control subjects by the use of the Méhes Scale. Results - The prevalence of minor physical anomalies was significantly higher in the autism group (p<0.001). The individual analysis of the 57 minor physical anomalies showed the significantly more frequent apperance of four signs (primitive shape of ear p=0.047, abnormal philtrum p=0.001, clinodactylia p=0.002, wide distance between toes 1 and 2 p=0.003). No correlation was found between the four significantly more common minor physical anomalies. Conclusion - The higher prevalence of minor physical anomalies in autism supports the neurodevelopmental hypothesis of the disorder and the individual analysis of minor physical anomalies can help to understand the nature of the neurodevelopmental defect.]

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[Sacral insufficiency fractures]

FERENC Mária, PUHL Mária, VARGA Péter Pál

[Background - The spontaneous osteoporotic fracture of the sacrum, known as a sacral insufficiency fracture (SIF) was first described as an unrecognized syndrome of the elderly by Laurie, in 1982. Numerous case histories and a few series of cases have been discussed in medical journals; however, none have been reported in Hungary. Goal - To delineate the leading diagnostic steps in the recognition of SIF and review the therapeutic guidelines. Case histories, methods - Between January 2009 and the first six months of 2010 11 cases of SIF were diagnosed at the National Center for Spinal Disorders. We examined the clinical aspects of the illness, the radiological modalities, the fracture markings, the pace of recovery and duration. Results - The 11 patients were found to have various SIF predestining etiological factors and the following classic fractures - H-type, unilateral, horizontal, unilateral-horizontal and vertical as well as a bilateral pattern. In cases often not showing obvious clinical symptoms and in cases resulting in conventional radiological examinations of low sensitivity and specificity, we used mapping techniques in setting up the exact diagnosis. Conclusion - If we consider SIF from patient history and known risk factors, diagnostic procedure (primer original) may be shortened and a number of unnecessary tests (biopsy) may be avoided.]

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Clinical Neuroscience

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