Genetik erblicher Syndrome und Missbildungen: Teil 2 [3., bearbeitete und erweiterte Auflage, Reprint 2021] 9783112478967, 9783112478950

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R E G I N E WITKÖWSKI/OTTO PROKOP Genetik erblicher Syndrome und Mißbildungen — Wörterbuch f ü r die Familienberatung — Teil I I

GENETIK ERBUCHER SYNDROME UND MISSBILDUNGEN Wörterbuch für die Familienberatung Teil II

REGINE WITKOWSKI OTTO PROKOP

3., bearbeitete und erweiterte Auflage

AKADEMIE-VERLAG • BERLIN 1983

Doz. Dr. rer. nat. habil. Regine Witkowski Nervenklinik, Abteilung für medizinische Genetik, Bereich Medizin der Humboldt-Universität zu Berlin DDR -1040 Berlin, Schumannstraße 2 0 - 2 1 Prof. Dr. med. habil. Otto Prokop Institut für gerichtliche Medizin der Humboldt-Universität zu Berlin DDR -1040 Berlin, Hannoversche Straße 6

Erschienen im Akademie-Verlag, DDR-1086 Berlin, Leipziger Straße 3—4 Lektor: Christiane Grunow © Akademie-Verlag Berlin 1983 Lizenznummer: 202 • 100/494/82 Gesamtherstellung: VEB Druckhaus „Maxim Gorki", 7400 Altenburg Bestellnummer: 762 971 1 (5967) • LSV 2057 Printed in GDR DDR 9 5 , - M (für Teil I und Teil II)

AARSKOG-Syndrom, Fazial-Digital-Genital-Syndrom BERMAN, P . , C. DESJAVDINS

a n d F . C. FBASER, T h e

of the AARSKOG Facial-digital-genital-syndrome. (1975) 885-891.

inheritance

J. Pediat

1)ERRAND, J . , P . T H I E R R Y , A . N O I R e t A . R A F F I , S y n d r o m e

86

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digito-genital ou syndrome d'AARSKOG. Pediatrie 32 (1977) 65 — 72. FRYNS, J. P . , J. MACKEN, L . VINKEN, L . IGODT-AMEYE and H . V A N DEN BERGHE, T h e AARSKOG s y n d r o m e , H u m . G e n e t . 42 ( 1 9 7 8 ) 129 — 135. F U K U K A W A , C. T . , B . D . H A L L a n d D . W . SMITH, T h e AARSKOG

syndrome. J. Pediat. 81 (1972) 1117 — 1122. K I R K H A M , T . H . , J . MILOT a n d P . BERMAN, O p h t h a l m o l o g i c m a n i -

festations of AARSKOG (facial-digital-genital) syndrome. Amer. J. Ophthalmol. 79 (1975) 4 4 1 - 5 . K U N Z E , J . u n d J . SPRANGER, A A R S K O G - S y n d r o m . K l i n . P a d i a t 1 8 5

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ABDERHALDEN-FANCONI-Syndrom, Zystinose, Aminosäurediabetes BAUER, B. und I. ANTENER, Eine wirksame diätetische und medikamentöse Cystinosebehandlung. Helv. Paediat. Acta 21 (1966) 19-27. KNAPP, A., Genetische Stoffwechselstörungen. 1970. KROLL, W . a n d K . - H . LICHTE, Cystinosis: a review of the different forms and of recent advances. Humangenetik 20 (1973) 75 — 87. KROLL, W . and J. A . SCHNEIDER, Recent progress in our knowledge of cystinosis. Clin. Endocrinol. Metab. 3 (1974) 57 — 69. M A H O N E Y , C. P . , G . E . STRIKER, R . 0 . H I C K M A N , G . B . M A N N I N G

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schwistern. Dtseh. Med. Wsehr. 97 (1972) 8 9 2 - 8 9 6 . C O O P E R , R . A. a n d C . I. G U L B R A N D S E N , The relationship between serum lipoproteins a n d red cell m e m b r a n e s in abetalipoproteinemia. J . Lab. Clin. Med. 78 (1971) 3 2 3 - 3 2 6 . C O T T V I L L , C . , C . J . G L U E C K , V. L E N B A et al., Familial homozygous hypobetalipoproteinemia. Metabolism. 2 3 ( 1 9 7 4 ) 7 7 9 — 7 9 1 . F E I T , J . P . , M . DAVID, V . MACABEO e t a l . ,

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E t u d e clinique, génétique, endocrinienne et metabolique d ' u n e nouvelle observation familiale. Pédiatrie 3 1 ( 1 9 7 7 ) 7 5 3 — 7 8 0 . K N A P P , A . , Genetische Stoffwechselstörungen. 1 9 7 0 . LLOYD, J . K . , Lipoprotein deficiency disorders. Bristol. Med. Child J . 84 ( 1 9 6 9 ) 1 5 9 - 1 6 5 . GLUECK, C. J . , P . GARTSIDE, R . W . FALLAT e t al., L o n g e v i t y

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Stoffwechselkrankheiten. 1 9 7 0 . and A. C. B I R D , Long term management of abetalipoproteinaemia. Possible role for vitamin E . Areh. Dis. Child 52 ( 1 9 7 7 ) 2 0 9 - 2 1 4 . SIGARDSSON, G . , A . NICOLL a n d B . LEWIS, T u r n o v e r of

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Aborte, Infertilität BATTIN, J . , Les avortements génétiques. Bord. Méd. 10 (1077) 595-606. B R E N K E R , H . - K . , 1. W I N K H A T J S - S C H I N D L und P . C I T O L E R , Chromosomenanomalien bei Ehepaaren mit wiederholten Aborten. Geburtsh. u. Frauenheilk. 38 (1978) 1 1 - 1 7 . B o r É , A. and J . BOTTÉ, Reproductive failure secondary to chromosome abnormalities. Acta. Eur. Fértil 6 (1975) 39 — 55. BouÉ, J . , A. BotrÉ a n d P . LAZAR. Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous h u m a n abortions. Teratology 12 (1975) 11—26. DTJTRILLAUX, B., Les troubles de la reproduction d'origine génétique. J . Gyn. Obst. Bio. Repr. 4 (1975) 7 8 5 - 8 0 1 . K A J I I , T., N . N I I K A W A and E. M O R O T T O , Origin of trisomies in h u m a n spontaneous abortions. Clin. Genet. 10 (1976) 360—361. KLINE, J . , An epidemiological review of t h e role of gravidity in spontaneous abortions. Early H u m . Dev. 1 (1978) 337 — 344. KULASCHENKO,

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Achalasie KÖTELES, G y . ,

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