- Full text PDF available (4)
We have analyzed the phospholipid composition of various organs of patients with the cerebro-hepato-renal (Zellweger) syndrome. The phospholipid composition of tissues from controls and patients was very similar except for their plasmalogen contents. In controls about 50% of the phosphatidylethanolamine fraction of brain, heart, kidney and skeletal muscle… (More)
UNLABELLED It is agreed, that all phaenomena of human life are under some genetic control, even the emotional and mental elements of the personality. However, the practical application of clinical genetics to classifying and diagnosing psychiatric illness in children is limited to certain patients. These may be classified according to criteria of history… (More)
A newborn female, the second child of consanguineous parents, exhibited general muscle hypotonia, apathy, hepatomegaly and failure to thrive from birth and signs of craniofacial dysmorphia were present. Pipecolic and trihydroxicoprostanoic acid were excreted in the urine and serum transferrin, ferritin and iron were markedly elevated. At the age of 7 weeks… (More)
Down syndrome is usually caused by complete trisomy 21. Rarely, it is due to partial trisomy of the segment 21q22. We report on a 33-month-old girl with tetrasomy 21 pter-->q22.1 resulting from an extra chromosome idic(21)(q22.1). She has craniofacial traits typical of Down syndrome, including brachycephaly, third fontanel, upward slanting palpebral… (More)
The association of low birth weight dwarfism, distinct facial dysmorphism and eczematous skin lesions has been described repeatedly since the first description by Dubowitz in 1965. The way of inheritance seems to be in some cases autosomal recessive. Because of the rarity of this entity, another case is reported showing an additional preauricular fistula.
Der Text dieser Datei ist identisch mit der Druckversion der Veröffentlichung. Die Titelei der Printausgabe beträgt 4 Seiten und wurde in der digitalen Version auf einer Seite zusammengefasst.
Segmentation, condensation and bilateral symmetry of the nuclei of polymorphonuclear leukocytes seem related to their function. Segmentation of the nuclei into two or more lobes and their condensation facilitate their passage (diapedesis) through the endothelial layer of blood vessels to the extravasal space and subsequent locomotion through the… (More)