Abstract
This paper reports observations on 4 patients with a newly recognized syndrome called the Dubowitz syndrome. Dubowitz provided some follow-up data on the patient he first described in 1965; in addition 3 personally studied patients are presented. To date the known patients have manifested intrauterine growth retardation (with primordial shortness of stature), microcephaly, variable degrees of eczema and mental retardation, and a characteristic facial appearance. It is presumed that the Dubowitz syndrome is recessively inherited.
Zusammenfassung
4 Patienten mit einem bisher unbekannten Symptomenkomplex werden beschrieben. Die Hauptmanifestationen dieses Syndromes sind primärer Zwergwuchs, schwere Mikrocephalie mit erstaunlich leichter Beeinträchtigung der intellektuellen Fähigkeiten und eine charakteristische Physiognomie. 2 unserer Patienten sind Geschwister. Die Schwester eines 1965 von Dubowitz publizierten—und in diese Arbeit einbezogenen—Falles war wahrscheinlich betroffen. Sie starb im Alter von 3 Monaten. Die Eltern aller Kinder sind normal. Wir nehmen an, daß dieses Syndrom recessiv vererbt wird.
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References
Dubowitz, V.: Familial low birthweight dwarfism with an unusual facies and a skin eruption. J. med. Genet. 2, 12–17 (1965).
Fuhrmann, W.: Genetics of growth and development of the fetus. Pediat. Clin. N. Amer. 12, 457–475 (1965).
German, J.: Bloom's Syndrome. 1. Genetical and clinical observations in the first twenty-seven patients. Amer. J. hum. Genet. 21, 196–227 (1969).
Penrose, L. S.: Genetics of growth and development of the fetus. Advances in Human Genetics. Chapter 4, pp. 56–75. London: Churchill 1961.
Smith, D. W.: Compendium on Shortness of Stature. J. Pediat. 70, 463–519 (1967).
Van den Berg, B. J., Yerushalmy, J.: The relationship of the rate of intrauterine growth of infants of low birthweight to mortality, morbidity and congenital anomalies. J. Pediat. 69, 531–545 (1966).
Warkany, J., Monroe, B. B., Sutherland, B. S.: Intrauterine growth retardation. Amer. J. Dis. Child. 102, 249–279 (1961).
Wilkins, L.: The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence, Ed. 3. Springfield (Ill.): Thomas 1965.
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Studies of Malformation Syndromes XXIV from the Birth Defects Research Center, Department of Pediatrics; Paper No. 1453 from the Genetics Laboratory of the University of Wisconsin, Madison.
Aided by a Grant from the National Foundation-March of Dimes.
Supported by NIH Grants GM 08217, GM 15422, 5 KO4 HD 18982 (Career Development Award), and by a Grant from the National Foundation-March of Dimes.
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Grosse, R., Gorlin, J. & Opitz, J.M. The Dubowitz syndrome. Z. Kinder-Heilk. 110, 175–187 (1971). https://doi.org/10.1007/BF00440382
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DOI: https://doi.org/10.1007/BF00440382