[Effect of dietary measures on body weight and height of children with phenylketonuria in East Germany]. / Einfluss der Diätbedingungen auf Körpergewicht und -grösse bei Kindern mit Phenylketonurie in Ostdeutschland.

Body length and body weight of 90 patients with PKU (48 girls and 42 boys) were compared during the years up to 1990 and thereafter. The patients got Berlophen up to 1990 for at least 3 years, and Milupa PKU or PAM (SHS) for 3 years thereafter. The data were compared with the percentiles according to Prader, the significance was calculated with the Chi2-Test. Body length and weight are significantly reduced during the first decade of life compared with normal population. Body length reaches normal values at the age of 12 years, body weight at 9 years respectively. The change of the diet after the german unification had no influence onto body weight and length. The retardation of body length, however, was more marked in patients with very strict dietary control compared to patients with more often dietary faults. The limited availability of essential nutrients seems to be the cause for the somatic retardation of the patients with PKU in the eastern part of germany.

Hereditary congenital posterior dislocation of radial heads.

We report on 4 patients with congenital posterior dislocation of radial heads in 3 generations of a family. Radiographs of the elbow joints of 3 individuals are presented. All affected subjects have mild limitation of extension and a strong restriction of rotation in the elbows. Comparison with previously described patients shows similarities in the X-ray findings. Congenital posterior dislocation of the radial head can be unilateral or bilateral. This malformation is also found in patients with antecubital pterygium or nail-patella syndrome. This family confirms the autosomal dominant inheritance of congenital posterior dislocation of radial heads.

The clinical usefulness of 3 alpha-androstanediol glucuronide in premenopausal women with hirsutism.

A biochemical parameter correlating with the clinical assessment of the severity of hirsutism and changing appropriately with the clinical response to treatment would be extremely useful. Preliminary reports of androstanediol glucuronide indicated that it was a peripherally-derived androgen and had a high correlation with clinical gradings of hirsutism. More recent reports have cast doubts on this association. This paper presents an evaluation of the clinical usefulness of androstanediol in 121 consecutive premenopausal patients with hirsutism. Androstanediol had a positive correlation with the clinical grading of hirsutism (p < 0.02) and the BMI (p < 0.01) but a negative correlation with age (p < 0.01). After adjustment for the effects of age and BMI there was no significant association between the degree of hirsutism and the level of androstanediol.

[A further case with Baller-Gerold syndrome (craniosynostosis--radial aplasia syndrome)--overview and new viewpoints on a rare syndrome]. / Ein weiterer Fall mit Baller-Gerold-Syndrom (Craniosynostosis--Radial Aplasia Syndrome)--Uberblick und neue Gesichtspunkte bei einem seltenen Syndrom.

The Baller-Gerold syndrome is a rare malformation syndrome with craniosynostosis. A radial defect is the main feature of this combination besides the premature craniosynostosis. The entity and the etiology of this inherited trait was often discussed in recent years. This syndrome is further characterised and presented as a distinct entity with the reported new case. Parents of such a child should be aware of the 25% recurrence risk in subsequent siblings because of an autosomal recessive mode of inheritance.

[Brachydactyly type A4 (brachymesophalangia II and V, Temtamy type). A rare type of brachydactyly]. / Brachydaktylie Typ A4 (Brachymesophalangie II und V, Temtamy-Typ). Ein seltener Typ von Brachydaktylie.

Brachydactyly is classified into 5 main types. In type A brachydactylies the shortening is mainly confined to the middle phalanges of the digits and toes. Brachydactyly type A4 is characterised by brachymesophalangy II and V. We found this rare type of brachydactyly in a child and his mother. We examined the hands and feet of these individuals radiologically. The reported malformation had affected members of 2 respectively 3 generations. There is no doubt about the autosomal dominant mode of inheritance.

[Case studies of the effect of tyrosine administration in children with phenylketonuria on cognitive processes]. / Fallstudien zum Einfluss von Tyrosingaben bei phenylketonurischen Kindern auf kognitive Prozesse.

Eight patients with phenylketonuria and low protein nutrition were treated in a double blind crossover study for the time of 3 month with 150 mg tyrosine per kg body weight and day and placebo thereafter or vice versa. The concentration of phenylalanine in serum was not influenced by the administration of tyrosine whereas tyrosine in serum markedly increased. Psychological tests were 7 times repeated in monthly intervals. From the study it is to suggest that there is an improvement of the test results caused by an effect of training due to the repeated tests and an additional improvement caused by tyrosine.

[The heart-hand syndrome. A new variant of disorders of heart conduction and syndactylia including osseous changes in hands and feet]. / Herz-Hand-Syndrom. Eine neue Variante mit Erregungsleitungsstörungen am Herzen und Syndaktylien einschliesslich ossärer Veränderungen an Händen und Füssen.

A male infant was born at the 36th week of gestation by cesarean section because of an intrauterine bradycardy. There was a 2nd degree a. v.-bloc postnatal. The heart rate was normal after the 5th day of life with a QT-interval of 150 percent resp. 120 percent after the 15th day. Additionally there were syndactylies of hands and feet. The infant suddenly died at the age of 5 months. Examination of the parents revealed a QT-interval of 115 percent as well as synostoses of the carpus in the father. These microsymptoms are very important for genetic counseling of the family. There is a recurrence risk of 50 percent for further children because a dominant trait is to be suggested.

[Effect of dietary non-compliance on development in phenylketonuria--studies of 14-year-old patients]. / Einfluss der Diätlockerung auf die Entwicklung bei PKU--Untersuchungen bei 14 Jahre alten Patienten.

25 children with early treated PKU were studied at the age of 14 years. The IQ was higher at the age of 6-8, 10 and 14 years if the dietary control was good (75% of the control values up to 10 mg/dl) compared to children with poor control. The IQ however decreased up to the age of 14 years in both groups. Discontinuation of the diet in children with a good dietary control at the age of 6 years because of a normal EEG after phenylalanine loading causes a decrease of the IQ from 100 at 6 years to 90 at 10 years. The IQ remains stable thereafter up to 14 years. The IQ ist lower at the age of 7 or 8 years in those children in whom the discontinuation of diet is delayed because of abnormal EEG after phenylalanine loading at the age of 6 years, but remains stable up to the age of 14. According to these results a discontinuation of the diet at the age of 6 years can not be recommended even if the EEG is normal after phenylalanine load.

[Results, problems and consequences of early treatment of phenylketonuria]. / Ergebnisse, Probleme und Konsequenzen der Frühbehandlung der Phenylketonurie.

Screening of PKU was started in GDR by means of a napkin-test in 1967 and by Guthrie-test in 1971. A normal development is possible if treatment is started within the first 3 months of life and if the dietary control is good. Maintenance of a dietary control becomes difficult with growing age. The diet, however, should strictly be kept up to the age of 8 to 10 years. Thereafter there should be a low protein nutrition possible with supplementation of tyrosine. Prenatal diagnosis, which is possible in most of the families by RFLP technique, is justified despite the good results because of the social impact onto the family caused by the treatment. Treatment again must be started before pregnancy and must strictly be kept up to birth to avoid fetal damage by maternal PKU.

[Reduced optimal obstetric and postnatal conditions in children with phenylketonuria and their effect on the success of treatment]. / Reduzierte obstetrische und postnatale Optimalitäten bei phenylketonurischen Kindern und ihr Einfluss auf den Behandlungserfolg.

We found a total of 433 reduced obstetric an postnatal conditions in 115 newborns with pku with a range of 0 (n = 4) to -11 (n = 1) per child. The 50th percentile of reduced optimal conditions was at -3, the 90th at -6. Early treated patients with excellent or good dietary control have significantly reduced developmental quotients (DQ) at the age of 3 years when the optimal conditions were reduced above the 90th percentile. Reduced optimal obstetric and postnatal conditions could be found in about 25 per cent of the patients with excellent or good dietary control and a DQ below 100, and in about 50 per cent with a DQ below 85. The effect of treatment is better in patients with excellent and good dietary control and a high value of reduced optimal conditions compared with patients with poor dietary control and an only low value of reduced optimal condition. The quality of dietary control therefore is the most important point to reach an optimal effect in early treated patients.

X-linked dominant Charcot-Marie-Tooth disease: suggestion of linkage with a cloned DNA sequence from the proximal Xq.

A large kindred with the X-linked dominant form of peroneal muscular atrophy (Charcot-Marie-Tooth disease) was analyzed for individual variation in the length of DNA fragments after restriction endonuclease digestion. A systematic search was performed for linkage with a series of cloned single-copy DNA sequences of known regional assignment to the human X chromosome. Close linkage was found with the pDP34 probe (DXYS1 locus, Xq13-q21), suggesting that the gene responsible for the disease is located on the proximal long arm of the X chromosome.

Detection of cystic fibrosis heterozygotes using a modified loading with bromide.

A three day loading with sodium bromide was performed in 19 healthy controls, 16 definite cystic fibrosis heterozygotes, and 14 homozygote patients with cystic fibrosis. After three days sodium, potassium, chloride, and bromide were determined in serum and sweat. Using a multivariate discriminant analysis two nonelementary functions with the features sodium index, bromide index, potassium index, and chloride in sweat allowed us to identify the three groups. The reclassification of the probands, however, was correct in only 69.3%. A second analysis with the groups of controls and heterozygotes only resulted in a unidimensional nonelementary function with the features potassium index, bromide/sodium in sweat, and sodium index. The reclassification of the probands was correct in 91.4%. The discriminant values were 8.28 +/- 0.96 in the controls and 11.67 +/- 1.03 in the heterozygotes with an overlap of twice the standard deviations between 9.61 and 10.20.

Pituitary-ovarian function in mothers who have had two sets of dizygotic twins.

Serum gonadotropin and estradiol levels were measured in 14 women with regular menses during the early and midfollicular phases. Early follicular follicle-stimulating hormone and, to a lesser extent, luteinizing hormone levels were significantly higher in a group of eight women who had had at least one set of dizygotic twins (six of whom had had two sets) than in a control group of six women with no dizygotic twins. Estradiol levels also tended to be higher in mothers of twins, particularly in the midfollicular phase. The two groups of women did not differ in age, height, weight, or parity.