ISSN:
1432-1076
Schlagwort(e):
Recessive inheritance
;
Parental consanguinity
;
Mild mental retardation/normal intelligence
;
Intrauterine growth retardation/shortness of stature/normal height
;
Catch-up growth
;
Microcephaly
;
Malformation syndrome
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
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.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF00438824
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