Studies of malformation syndromes of man XXIV B: The Dubowitz syndrome. Further observations |
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| Authors: | J. M. Opitz R. A. Pfeiffer J. P. R. Hermann T. Kushnick |
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| Affiliation: | (1) Departments of Pediatrics and Medical Genetics, University of Wisconsin Center for Health Sciences and Medical School, 53706 Madison, Wisconsin;(2) Abteilung für klinische Genetik und Cytogenetik, Institut für Humangenetik der Universität Münster, Münster, Deutschland;(3) Division of Human Genetics, Department of Pediatrics, New Jersey Medical School, Newark, New Jersey |
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| Abstract: | ![]()
This paper reports observations on 6 new patients with the Dubowitz syndrome which was first defined by Grosse et al., in 1971 and which is a recessively inherited, pleiotropic malformation syndrome including variable degrees of intrauterine growth retardation and primordial shortness of stature, microcephaly, mental retardation, eczema, and a characteristic appearance, voice and combination of minor anomalies. Data in the present report show that eczema can be absent, and patients can be of normal height, and of normal intelligence in spite of a head circumference which has so far always fallen below the third percentile. So far 11 patients (8 females and 3 males) are known with the Dubowitz syndrome; in one family the parents were first cousins.Paper No. 1617 from the University of Wisconsin Genetics Laboratory. |
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| Keywords: | Recessive inheritance Parental consanguinity Mild mental retardation/normal intelligence Intrauterine growth retardation/shortness of stature/normal height Catch-up growth Microcephaly Malformation syndrome |
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