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Biomedical subjects

W Fuhrmann

Publications and source records attributed to W Fuhrmann.

At least 37 records · Page 2Linked to original sources
PubMed1987

Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes.

Thirteen newborns with lethal short rib-polydactyly (SRP) have been reviewed, 11 with SRP type III (Verma-Naumoff) and 2 with SRP type II (Majewski). In the former group there were three sets of siblings. The excess of males with SRP type III (Verma-Naumoff) is confirmed in this present study. A high frequency of phenotypic females including sex-reversed constitutional males with SRP type I (Saldino-Noonan) is in marked contrast to these findings in SRP type III. Possible hypotheses include variable expressivity in non-Majewski short rib-polydactyly syndromes with sex-reversed and constitutional female cases tending to show more severe phenotypic expression both in terms of major anomalies and skeletal dysplastic effects.

Bone and Bones↗
PubMed1987

Fatal aplastic anaemia in a child with features of Dubowitz syndrome.

We describe a boy with features of Dubowitz syndrome who developed anaemia, thrombocytopenia and granulocytopenia at 3 years of age. The family refused blood component transfusion and he died 6 months later from severe anaemia and pulmonary bleeding. This is the second case of bone marrow aplasia in 38 reported cases of Dubowitz syndrome. It is proposed that patients with Dubowitz syndrome need long-term follow up, including complete blood counts.

Anemia, Aplastic↗
PubMed1987

[What should the pediatrician know about prenatal AFP diagnosis?].

Alphafetoprotein (AFP) represents an embryo-fetal glycoprotein. The fetus it enters amnion fluid and maternal serum. Increased concentrations are observed in these fluids in the presence of certain fetal malformations, e.g. neural tube defects and anterior abdominal wall defects or omphalocele, and in congenital nephrosis of the Finnish type. An increased concentration also signals general risks as an increased tendency to abortion or to low birth weight infants. Very low maternal serum AFP indicates an increased risk for trisomy 21. Postnatally increased AFP-concentration has been described in ataxia-teleangiectasia (Louis-Bar-Syndrome) and in severe combined immunodeficiency syndrome. Although the AFP-determination is mainly used for obstetric prenatal care and diagnosis it also has an importance for the pediatrician as an early indicator of special risks.

Acetylcholinesterase↗
PubMed1985

Maternal serum alpha-fetoprotein screening for neural tube defects. Report of a combined study in Germany and short overview on screening in populations with low birth prevalence of neural tube defects.

The basis of maternal serum alpha-fetoprotein (AFP)-screening for neural tube defects is discussed. A report is given of a large scale screening study in the Federal Republic of Germany combining the experiences in Giessen and Hannover on over 50,000 pregnant women, about evenly distributed among both centers. Published and known forthcoming data from other low incidence populations, particularly of European countries, are reviewed briefly. The conclusion is reached that general screening could effectively be instituted and in the final result should also be cost-beneficial.

Amniotic Fluid↗
PubMed1985

Sibs of probands with neural tube defects--a study in the Federal Republic of Germany.

Data for the risk of neural tube defects in sibs of affected children are needed for genetic counselling, for decision on prenatal studies, and for planning of preventive measures. Data have been reported from various populations but were lacking for Germany. This study presents data on the siblings of 240 index patients in the Western part of the Federal Republic of Germany. The prevalence among sibs of affected individuals was found to be 2.6%. This figure agrees well with reports from other countries in Continental Europe and the United States, and fits the expectation of lower recurrence risks in low incidence populations.

Abortion, Spontaneous↗
PubMed1984

Epidemiology of neural tube defects in Germany.

A survey is made of the epidemiologic studies of neural tube defects (NTD) in Germany. A temporary increase is noted in the prevalence of NTD at birth for the time during and shortly after the Second World War, followed by a downward trend thereafter. Thus an earlier observation of Lenz (1965) could be confirmed. Falling rates of NTD were also reported from various other countries in recent years. No convincing etiological explanation is available so far. The current prevalence of NTD at birth can be estimated for Germany to be about 1.0-1.5 per thousand newborns with about an even distribution to anencephalus and spina bifida.

Anencephaly↗
PubMed1984

Duplication or insertion in 15q11-13 associated with mental retardation-short stature and obesity-Prader-Willi or Cohen syndrome?

Difficulties of differential diagnosis between Prader-Willi Syndrome and Cohen Syndrome are demonstrated in a 12-year-old girl with obesity and mental retardation. Cytogenetic studies showed an apparently supernumerary band on chromosome 15 in the proximal region q11-13. Both parents have a normal karyotype. The aberrant chromosome was derived from an apparently normal paternal chromosome.

Abnormalities, Multiple↗
PubMed1984

[How are the Blaschko lines arranged on the scalp?].

Linear inherited or nevoid skin lesions mostly follow a characteristic pattern which was delineated by Blaschko in 1901. The system of lines published by this author covered the entire human body, with the exception of the scalp because of lack of pertinent case reports regarding this area. We here report an observation which enables us to fill the blank area in the atlas of the lines of Blaschko. On the scalp of a girl affected with the oral-facial-digital syndrome, we observed an alopecia distributed in several spiral streaks. The pattern resembled that of the normal vertex, but the direction of the hairless streaks did not correspond completely to the direction of hair growth. As the oral-facial-digital syndrome is inherited as an X-linked dominant trait, the linear alopecia probably reflects functional X-chromosome mosaicism. Arguments are presented in favor of the assumption that the hairless streaks of this child follow the lines of Blaschko.

Abnormalities, Multiple↗
PubMed1983

[Prenatal recognition of genetic diseases and neural tube defects].

A growing number of metabolic genetic defects can be diagnosed prenatally; however, the most common genetic diseases defy our efforts so far. Promising new avenues are mentioned. Efforts to diagnose neural tube defects in early pregnancy have gained wide acceptance. The most widely used method is alpha-fetoprotein (AFP)-determination in amnion fluid supplemented by ultrasound examination and particularly successfully by the ACHE-(acetyl-cholinesterase)gel test. In many countries, a general introduction of AFP-screening in maternal serum for neural tube defects is being considered. Two large field studies, each including some 24,000 patients, will soon be completed in Giessen and Hannover. They were designed to supplement the data from Great Britain in judging the advisability of mass screening of maternal serum AFP in the second trimenon in a low-incidence area such as Western Germany. The concluding discussion touches on future aspects of prenatal diagnosis and ethical considerations.

Acetylcholinesterase↗
PubMed1982

Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion.

Paracentric inversion of chromosome 7 was found in a female infant with multiple malformations and in her phenotypically normal mother. Examination of prometaphase chromosomes revealed an additional small dark band on the inverted chromosome 7 of the girl. It was assumed that an unequal crossing over at the base of a meiotic loop of chromosome 7 had occurred in the mother and resulted in a tiny interstitial duplication in the girl.

Abnormalities, Multiple↗
PubMed1982

Familial tiny 9p/20p translocation: 9p24. The critical segment for monosomy 9p syndrome.

The presence of a chromosomal translocation was suggested in a large kindred with several cases of mental retardation. Chromosome analysis by means of a high resolution technique revealed a translocation of a tiny terminal portion of 9p onto 20p in the presumptive balanced translocation carriers. Five of the affected family members demonstrated monosomy of the terminal portion of 9p. Their clinical features fitted well to the known 9p- syndrome. The breakpoint on 9p is in the distal part of band 9p23. This family confirmed the assumption that the critical segment for monosomy 9p syndrome is located within the terminal band 9p24.

Adult↗
PubMed1980

Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs--a new autosomal recessive syndrome.

An apparently hitherto undescribed, severe skeletal syndrome is reported in 3 siblings (2 boys, 1 girl) in a family of Turkish-Arabian descent. Major manifestations include: hypoplasia of the pelvis, congenital dislocation of the hip, severe bowing of femora, aplasia or hypoplasia of fibulae, absence or coalescence of tarsal bones, absence of various metatarsals, hypoplasia and aplasia of toes, clinodactyly, hypoplasia of fingers and fingernails, and postaxial polydactyly. Consanguinity is denied, but the fact that both parents belong to the same Christian minority from the same province may indicate common ancestry. Autosomal recessive inheritance is presumed.

Abnormalities, Multiple↗