We describe one family with 5 affected persons in 4 generations, another family with 2 affected brothers and 3 sporadic cases of the rare syndrome of congenital scalp defects with distal limb deficiency. The manifestations of this syndrome are highly variable. Review of the literature showed 11 families and 19 sporadic cases. In most families the disorder clearly follows an autosomal dominant pattern of inheritance, but in some families with reduced penetrance. Important differential diagnoses are the syndrome of scalp defect and postaxial polydactyly, the syndrome of scalp defect and split-hand defect, amniotic band sequence, and epidermolysis bullosa dystrophica type Bart.
Im Oktober 1960 haben Kosenow und Pfeiffer auf der Tagung der Deutschen Gesellschaft für Kinderheilkunde in Kassel Räntgenbilder i.md Fotografien von zwei Säuglingen mit Aplasie der Daumen, der Radii und der Tibiae, Duodenalstenose und kapillärem Häthangiom der Oberlippe demonstriert. Einer hatte außerdem eine Femuraplasie. Ansctheinend war keinem der Anwesenden, audi den erfahrensten Pädiatern nicht (z. B. Fanconi), dies neue Syndrom bekannt. Wiedemann lenkte knapp ein Jahr später die Aufmerksamkeit der Ärzte auf das erschreckende, geradezu epidemische Zunehmen ähnlicher Mißbildungen seit 1959. Er erkannte, daß das neue Syndrom sehr variabel ist. Neben Fälle, denen alle Gliedmaßen fehlten, stellte er andere, denen anscheinend nur die Daumen und die Radii fehlen, und er machte auf die häufigen Begleitmißbildungen an Herz, Nieren und Darm aufmerksam. Kosenow und Pfeiffer haben auf der Tagung der Rheinisch-Westfälischen Kinderärztevereinigung in Düsseldorf am 18. November 1961 Argumente aus Zwillingsbeobachtungen, Familienuntersuchungen und der Statistik der neuen Mißbildungen angeführt, die für eine exogene, vermutlich ,,intoxikationsartige' Noxe sprechen. Wiedemann vermutete einen neuerdings eingeführten, verbreiteten ,,toxischen Faktor als Ursache. In der Diskussion zu dem Vortrag von Kosenow und Pfeiffer hat der eine von uns (W. L.) den Verdacht ausgesprochen, daß ein bestimmtes Medikament, das in 17 von 20 Anamnesen auftauchte, ursächlich verantwortlich sein könne. Am 25. November hat die Herstellerfirma das Präparat Con-tergan® (Thalidomid) und andere Thalidomid enthaltende Mittel auf diesen Verdacht hin aus dem Handel gezogen. Vereinzelte Ärzte glauben auch heute noch nicht, daß Thalidomid diese Mißbildungen verursacht. Ohne es deutlich aus-
A study of 491 patients with femur-fibula-ulna (FFU) complex is presented. The term FFU complex has been proposed for cases in which the femur, fibula and/or ulna show defects, which tend to be associated. These cases are usually sporadic. Some rare anomalies of the arms which are present are particularly frequent in FFU complex. These are amelia, peromelia of humerus, humero-radial synostosis and defect of ulna. In our study, 491 patients were investigated for involvement of limb malformations. Our results, showing nearly equal proportions of the most common malformations in four analysed groups (with one, two, three and four limbs affected) supports the hypothesis that even if one arm or one leg only is affected, the cases may still be classifiable as FFU complex. There is a striking asymmetry in presence and in degree. All malformations are more often unilateral than bilateral. Upper limbs are affected more often than lower limbs. The right side and the male sex are preferentially affected. The limb malformations present in the FFU complex are different from those seen in most other types of limb defects, so there is virtually no overlap between FFU and other limb malformations. Some arguments in favour of early somatic mutation as a cause are discussed.
Objective-To examine genetic and environmental factors in the origin of isolated congenital limb deficiencies.Design-Case-control study with questionnaire at a family interview of cases of isolated congenital limb deficiencies (six types), negative controls (matched for age, sex, and place of residence), and positive controls (cases ofsentinel anomalies).Setting-
IntroductionMaternal smoking during pregnancy causes lower birth weight and higher rates of infant mortality and spontaneous abortion.12 The teratogenic effect of smoking during pregnancy, however, has not been proved unequivocally.We studied the possible genetic and environmental factors in the origin of isolated congenital limb deficiency (one or more limbs affected without other defects) in children in Hungary with a validated diagnosis. The data were gathered over 10 years and totalled 1 575 904 births.
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