Summary
A family study of 274 index patients with limb reduction malformations born in Hungary from 1975 to 1977 is reported. The majority of 789 first-degree relatives were personally examined. Information was collected on 1094 uncles and aunts and on 1095 cousins, and those affected by limb malformations were examined. Among 789 first-degree relatives six were affected by a similar malformation (radial, ulnar and central ray defects) and 1 by a malformation of a different type; no secondary cases of the same type were found among the relatives of patients with terminal transverse and amniogenic malformations, and with limb malformations which were part of syndromes or unclassifiable associations with other malformations. While a few rare types of limb defects are due to dominant genes, the aetiology of most cases is obscure. There is no evidence of sex-linked inheritance, of multifactorial causation or of environmental factors shared by relatives. These results are similar to those of an earlier study by Birch-Jensen.
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References
Birch-Jensen A (1949) Congenital deformities of the upper extremities. Ejnar Munksgaard, Copenhagen
Freire-Maia N (1970) A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities. Am J Hum Genet 22:370–377
Freire-Maia N, Freire-Maia A (1967) Recurrence risks of bone aplasias and hypoplasias of the extremities. Acta Genet Statist Med 17:418–421
Fuhrmann-Rieger A, Fuhrmann W (1979) Perobrachysyndaktylie mit amniotischen Schnürfurchen bei Mutter und Tochter. In: Tolksdorf M, Spranger J (eds) Klinische Genetik in der Pädiatrie, 1. Symposium in Kiel. Thieme, Stuttgart, S 127–133
Gellis SS (1977) Constrictive bands in the human. In: Bergsma D, Lenz W (eds) Morphogenesis and malformation of the limb. New York: Alan R. Liss for the National Foundation—March of Dimes BD: OAS XIII, 1:259
Graham JB, Badgley CE (1955) Split-hand with unusual complications. Am J Hum Genet 7:44–50
Grebe H (1942) Dysplasie der rechten Körperhälfte bei einem Paarling von eineiigen Zwillingsschwestern. Erbarzt 10:99–109
Günther R (1937) Zur Kasuistik der amniogenen Mißbildungen. Erbarzt 4:158–159
Günther R (1939) Zur Frage der angeborenen Amputationen. Z menschl Vererb-Konstit.lehre 23:736–768
Hananian J, Koch K, Condron CJ (1976) Leukemia in a twin with multiple congenital limb abnormalities. Birth Defects: Orig Art Ser XII, no 1, 171–176 The National Foundation
Hanhart E (1945) Stark unregelmäßige Dominanz einer Anlage zu Spalthand auf Grund eines schwachen, entwicklungslabilen Gens. Arch Julius Klaus-Stiftung 20:96–118
Heikel HVA (1959) Aplasia and hypoplasia of the radius. Inaug. Diss. med. Helsinki. Acta orthop scand, suppl 39
Jones KL, Smith DW, Hall BD, Hall JG, Ebbin AJ, Massoud H, Golbus MS (1974) A pattern of craniofacial and limb defects secondary to aberrant tissue bands. J Pediat 84:90–95
Kancherla PL, Untawala VG, Grabiel JB, Chauhan PM (1981) Intrauterine amputation in one monozygotic twin associated with amniotic bands: a case report. Am J Obstet Gynecol 140:347–348
Keller H, Neuhäuser G, Kurkin-Stamm MV, Kaveggla EG, Schaaff A, Sitzmann F (1978) “ADAM complex” (amniotic deformity, adhesions, mutilitations)—a pattern of craniofacial and limb defects. Am J Med Genet 2:81–98
Kindl S (1907) Fünf Falle von angeborenen Defektbildungen der Extremitäten. Z Heilkd 28; N.F. 8:110–138
Klaussner F (1900) Über Mißbildungen der menschlichen Gliedmaßen und ihre Entstehungsweise. J. F. Bergmann, Wiesbaden, S 1–151
Lotheissen G (1899) Über angeborenen Mangel des Oberschenkelknochens. Beitr Klin Chir 23:139–148
Lubinsky M, Sujansky E, Sanger W, Salyards P, Severs Ch (1983) Familial amniotic bands. Am J Med Genet 14:81–87
Nitsche F, Armknecht Ph (1933) Orthopadische Leiden bei Zwillingen. Z Orthop Chir 58:518–537
Oellers P (1974) Dominant erbliche Radiusstrahldefekte (Holt-Oram-Syndrom). Inaug.-Diss., Münster
Pardini AG (1968) Radial dysplasia. Clin Orthop 57:153–177
Potter EL, Craig JM (1975) Pathology of the fetus and the infant, 3rd edn. Chicago, Year Book Medical Publishers, Inc, pp 133, 650
Pysher TJ (1980) Discordant congenital malformations in monozygous twins: the amniotic band disruption complex. Diagn Gynecol Obstet 2:221–225
Schmidt A (1983) Unilateral split-hand in one of monozygotic twins. Hum Genet (in print)
Schröder CH (1939) Missbildungsvererbung in der Chirurgie. Ergebn Chir Orthop 32:457–526
Schwarzweller F (1938) Ein Beitrag zur Genese und Systematik der Gliedmaßenmißbildungen. Arch orthop Unfall-Chir 39:400–419
Shiono H, Ogino T (1980) A discordant case of monozygotic twins with symbrachydactyly. Acta genet Med Gemellol 29:241–245
Temtamy S, McKusick V (1978) The genetics of hand malformations. Birth Defects: Orig Art Ser 14, no 3, 1–619
Werthemann A (1952) Die Entwicklungsstörungen der Extremitäten. In: Lubarsch O, Henke F, Rössle R (eds) Handbuch spez. Pathol., Anat. und Histol., Bd 3, 6. Teil. Springer, Berlin Göttingen Heidelberg
Wetsch R (1979) Die atypische Spalthand. Morphologie und Klassifikation auf Grund von 54 eigenen Fällen und der Literatur. Inaug.-Diss. Med., Münster
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Dedicated to Professor Dr. P.E. Becker on the occasion of his 75th birthday
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Czeizel, A., Bod, M. & Lenz, W. Family study of congenital limb reduction abnormalities in Hungary 1975–1977. Hum Genet 65, 34–45 (1983). https://doi.org/10.1007/BF00285025
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DOI: https://doi.org/10.1007/BF00285025