In Memoriam

Walter Fuhrmann

Friedrich Vogel*Institut fur Anthropologie und Humangenetik, Ruprecht-Karls-Universitat Heidelberg, Heidelberg, Germany

Walter Fuhrmann (Fig. 1), Professor Emeritus ofHuman Genetics, University of Gießen, Germany, diedon 19 October, 1995, 10 days after coronary bypass sur-gery, of Pseudomonas pneumonia. We have lost a dis-tinguished medical geneticist.

Fuhrmann was born on September 12, 1924 in Ber-lin, where he lived with intermissions until 1962. I firstmet him in 1938; we went to school together and, afterour lucky return from World War II, both of us studiedmedicine. He finished medical school in 1951, and wasone of the first German physicians to be invited to theUnited States for a rotating internship. Having workedin Elizabeth, NJ and Boston for over 2 years, he cameback to Berlin and specialized in pediatrics. His expe-rience as a pediatrician—and our friendship—inspiredhim to choose medical genetics as field of scientific in-terest. He spent 1963 in David Hsia’s group at Chicagoworking on hereditary metabolic diseases. Afterwards,he joined our Heidelberg group for 3 years until he wasoffered in 1966 the newly founded Chair of Human Ge-netics at Gießen University. Despite attractive offersfrom other universities, he stayed in Gießen from 1967until his retirement in 1992.

During the late 1950s and early 1960s, he publisheda number of papers on families with genetic anomalies;but the study which made him best known internation-ally was a case-control study on malformations of theheart which was published in 1961, and in which hedevoted special care to the problem of finding adequatecontrols. In Chicago, he mainly worked out interestingresults on carbohydrate-induced hyperlipidemia. Laterin Heidelberg, he supplemented his studies on congen-ital heart disease by a comprehensive investigation offamilies in which 2 sibs with heart malformations hadbeen born. He was the first to give reliable empiric riskfigures for such families. Another field of interest, towhich he contributed important observations, was mal-formations of limbs. Already in the 1950s, he had re-ported (together with his wife Annemarie Fuhrmann-Rieger), on a case and a pedigree of the OFD syndrome;later he worked out clinical and genetic details of thissyndrome, one of the first examples of the X-linkeddominant mode of inheritance with lethality of malehemizygotes. In addition to many other medical geneticstudies, he published a book in which basic facts and

concepts of medical genetics were explained succinctlyfor physicians. Together in 1968 we wrote a small bookon genetic counseling, which, up to the mid-1980s,went through 12 editions in seven languages, amongthem three in English. This book helped make geneticcounseling better known among physicians in Ger-many and in many other parts of the world.

In 1967, in Gießen, he founded an entirely new in-stitute; cooperation with a medical faculty and withlocal practitioners had to be established. His activitieswere widespread and comprehensive. In addition to es-tablishing genetic diagnosis and counseling services,he used his unusual expertise in birth defects and ge-netic diseases to help his clinical colleagues solve trickydiagnostic problems. His own scientific interest wascentered around cardiac and vascular anomalies. Pub-lications on topics such as heart malformations,anomalies of heart action demonstrated by ECG, andcardiac signs of metabolic diseases made him an inter-national expert in this neglected field. However, moreand more, another group of problems occupied his in-terest: prenatal diagnosis of neural tube defects andother anomalies, such as Down syndrome, by studies ofAFP and other metabolites in amniotic fluid and ma-ternal blood. Together with obstetricians, he elimi-

*Correspondence to: Em. Prof. Dr. Dr.h.c. Friedrich Vogel, ImBubenwingert 19, 69181 Leimen, Germany.

Received 23 May 1966; Accepted 9 August 1996 Fig.1

American Journal of Medical Genetics 69:345–347 (1997)

© 1997 Wiley-Liss, Inc.

nated many premature and poorly founded conceptsand recommendations, and worked out clear rules fordiagnosis, prognosis, and therapeutic action. In thisway, he helped numerous families in often-difficult de-cisions.

In solving these problems, his best abilities showedup: clear and exact thinking; a critical attitude towardoverenthusiastic conclusions with wishful thinking;but also the ability to arrive at a decision, and to stickto it and defend it whenever necessary. These abilities,together with absolute honesty and reliability, were re-sponsible for his high reputation among colleagues andcoworkers.

Retirement from his academic functions did notmean an end to his work in medical genetics. Amonghis more recent publications, a contribution on geneticcounseling and screening in pregnancy to a new bookon prenatal diagnosis and therapy (published by Wiss.Verlagsanstalt Stuttgart) is especially valuable.

Medical geneticists all over the world have suffered asevere loss through his death. For me, the human lossis much more severe. Since we had come to know oneanother as schoolboys in 1938, our lives had proceededin parallel. We were friends in the full meaning of theword, connected in a friendship which was founded onmutual trust and very similar purposes in life. I shallmiss him badly.

ACKNOWLEDGMENTS

My gratitude goes to Ms. LaVelle M. Spano for re-typing this manuscript.

APPENDIX A: BIBLIOGRAPHIC COMMENTS

In addition to the items cited in Table I from the 11thedition of McKusick [1994], the following publicationsdeserve note.

BOOKS

Two are mentioned in the above text; the third ap-peared in 1970 and was entitled, ‘‘Genetics, ModernMedicine and the Future of Human Kind’’ [Genetik,Moderne Medizin und Zukunft des Menschen, Munich,Goldmann, Wissenschaftliches Taschenbuch].

HANDBOOK ARTICLES (ALL IN GERMAN)z Genetic and peristatic causes of congenital angiocar-

diopathies [1962].z Chapters on the heart and vascular anomalies in

Becker’s ‘‘Handbuch der Humangenetik,’’ Stuttgart,Thieme, [1972].

z Formal genetics of humans and genetic aspects ofmalformations [‘‘Hdb Allg Pathol,’’ Altmann et al.(eds) Springer, 1974].

z Heredity and Constitution [‘‘Orthopadie in Praxisund Klinik,’’ Stuttgart, Thieme, 1980].

z Hereditary diseases [‘‘Kindler’s Enzyklopaedie DerMensch,’’ Kindler, 1982].

z Early recognition and prevention of anencephalyand meningomyelocele . . . Federal Ministry for Re-search and Technology Report, 1984.

z Genetic counseling, prenatal diagnosis in ‘‘Klinikder Frauenheilkunde und Geburtshilfe,’’ Wulf et al.(eds) Munich, Urban and Schwarzenberg, 1992.

z Genetic aspects of congenital malformations of theheart and great vessels, in ‘‘Spezielle PathologischeAnatomie,’’ Doerr W, Seifert G (eds), Berlin,Springer, 1993 (one of the best reviews on the sub-ject in print!).

TEXTBOOK CHAPTERS

Textbook chapters covered genetic aspects of lipido-ses (1967), genetic basis of rheumatic carditis (1968),inheritance in congenital heart disease (1968), geneticconsiderations of family planning (1969), genetic as-pects of hyperlipidemias (1969), diabetes mellitus andthe hyperlipidemias (1976), early recognition of fetalanomalies on the basis of maternal serum and amnioticfluid (1984), risks to the unborn (1986), prenatal diag-nosis of neurologic diseases (1986), genetic aspects ofartificial insemination (1988), pregnancy proteinmarkers of congenital anomalies (1988), prenatal diag-nosis (1989), genetic counseling and prenatal diagnosis(1990), introduction to human genetics (1990) geneticcounseling (1993), counseling and screening in familyplanning and pregnancy (1995).

TABLE I. Contributions of Walter Fuhrmann to MedicalGenetics, as Cited by McKusick [1994]

MIM 109400 Nevoid basal cell nevus syndrome [Lorenz andFuhrmann, 1978].

MIM 113310 Brachydactyly-ectrodactyly with fibular aplasiaor hypoplasia [Genuardi et al., 1990].

MIM 119550 CPLS syndrome [Fuhrmann et al., 1972].MIM 126950 Dwarfism with tall vertebrae [Fuhrmann et al.,

1972].MIM 143050 Humeroradial synostosis [Fuhrmann et al.,

1966].MIM 158170 Monosomy 9p-syndrome [Hoo et al., 1982].MIM 171500 ACP1, Arg105Gln [Fuhrmann and Lichte, 1966].MIM 173800 Poland anomaly [Furhmann et al., 1971;

Fuhrmann, 1972].MIm 176270 Prader-Willi syndrome [Fuhrmann-Rieger et al.,

1984].MIM 186500 ‘‘WL syndrome,’’ synostoses, multiple, with

brachydactyly (symphalangism-brachydactyly syndrome; WLsyndrome; deafness-symphalangism syndrome of Herrmann;facioaudio-symphalangism syndrome) [Fuhrmann et al.,1966].

MIM 206500 Anencephaly [Fuhrmann et al., 1971], animportant paper in English on apparent monogenicinheritance of anencephaly and spina bifida in a kindred.

MIm 216550 Cohen syndrome [Fuhrmann-Rieger et al., 1984].MIM 223370 Dubowitz syndrome [Berthold et al., 1987],

reporting fatal aplastic anemia in this condition.MIM 223550 Dwarfism, proportionate, with hip dislocation

[Fuhrmann, 1972].MIM 228930 Fibular aplasia or hypoplasia, femoral bowing

and poly-, syn-, and oligodactyly (Fuhrmann syndrome)[Fuhrmann et al., 1980, 1982].

MIM 252100 OFD II [Fuhrmann and Stahl, 1970].MIM 273750 MMM-dolichospondylic dysplasia [Fuhrmann et

al., 1972].MIM 311200 OFD I [Fuhrmann and Vogel, 1960; Fuhrmann

et al., 1966].

346 Vogel

SELECTED PAPERSFuhrmann W (1958): Uber die Zeitwerte im Elektrokardiogramm gesunder

Sauglinge in den ersten einhundert Lebenstagen. Z Kinderheilkd 81:131–140.

Fuhrmann W, Vogel F (1960): Zur Genetik der Kombination von Lippen-Kiefer-Gaumenspalten und Syndaktylie. Monatsschr Kinderheilkd108:20–25.

Jacvcic S, Fuhrmann W, Hsia DYY (1965): Glycogen storage disease pre-viously reported as familial hyperlipidaemia. Pediatrics 36:956.

Stahl A, Fuhrmann W, Schroeder TM (1966): Das oro-facio-digitale Syn-drom. Zugleich eine Diskussion der Erbgange mit geschlechtsbegren-ztem Letaleffekt. Humangenetik 2:133–164.

Fuhrmann W (1968): Inheritance in congenital heart disease. In: ‘‘Proceed-ings of the 5th European Congress of Cardiology, Athens.’’ pp 1515–1522.

Fuhrmann W (1968): The genetic basis of prenatal growth. In: ‘‘Memoirs ofthe XII International Congress of Pediatrics,’’ Volume I. pp 197–200.

Fuhrmann W (1971): Genetische Grundlagen von Herz- und Ge-faßerkrankungen. Munchen Med Wochsschr 113:594–603.

Fuhrmann W, Naegele E, Gugler R, Adili E (1972): Familiarer Minder-wuchs mit unproportioniert hohen Wirbeln. Humangenetik 16:271–282.

Lorenz R, Fuhrmann W (1978): Familial basal cell naevus syndrome. HumGenet 44:153–163.

Fuhrmann W, Fuhrmann-Rieger A, DeSousa (1980): Poly-, syn-, and oli-godactyly, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bow-ing of femora in three sibs. A new autosomal recessive syndrome. EurJ Pediatr 133:123–129.

Fuhrmann W, Weitzel HK (1985): Maternal serum alpha-fetoproteinscreening for neural tube defects. Report of a combined study in Ger-many and short overview on screening in populations with low birthprevalence of neural tube defects. Hum Genet 69:47–61.

Fuhrmann W (1987): Fertilitat und Turner Syndrom. Padiatr Praxis 35:412.

Fuhrmann W (1988): Humangenetische Betrachtungsweise in der Kiefer-orthopadie. Fortschr Kieferorthop 49:86–95.

Fuhrmann W (1989): Impact, logistics and prospects of traditional prenataldiagnosis. Clin Genet 36:378–385.

In Memoriam: Walter Fuhrmann 347