Duplication 7p de novo and literature review.

We report on a boy with duplication of the short arm of chromosome 7 (karyotype 46,XY, dup (7) (p11.2----pter), QFQ, GTG, RBA). The boy showed delayed closure of fontanels, reduced eyebrows, short nose with low and broad nasal bridge, small upper and prominent full lower lips, severe delay of speech development.

Fanconi-Bickel syndrome.

Clinical, biochemical, functional and morphological data are presented in nine infants, children and adults, with Fanconi-Bickel syndrome. Long-term follow-up studies show severe growth retardation, partly compensated for by late onset of puberty. Glomerular filtration rate is normal or slightly decreased.

[Familial adenomatosis coli--a precancerous condition].

The presented paper includes the medical records of five children with familial adenomatous polyposis coli on the one hand and the detailed description of the pathologic findings of the disease on the other hand. Particular emphasis is given to the morphologic criteria of the disorder predisposing the affected individuals to development of colorectal cancer at unusually early ages. In the current cases there was a so-called classical presentation of diffuse polyposis in the early and late childhood respectively.

Postnatal development of tubular phosphate reabsorption.

In 51 infants (0.5-12 months) and 143 children (1-15 years), the postnatal development of renal phosphate handling could be studied by short term clearance investigations. The infants demonstrated significantly higher values of plasma phosphate (Pp), urinary phosphate excretion and endogenous phosphate clearance than the children.

[Juvenile spongy dystrophy of CNS with necrosis of the medulla. A. complication of hydroxyquinoline therapy (author's transl)].

A girl of 10-5/12 years is described, who had diabetes mellitus from the age of 5 years on and who developed bilateral ptosis, pigment degeneration of the retina and bilateral impairment of hearing at the age of nine years. A few weeks before death she suffered from an acute gastrointestinal infection which was successfully treated by a hydroxyquinoline derivative. In the days following a severe encephalopathy and signs of cardiac involvement appeared.