A 22-year-old woman is described who presented with triphalangeal thumbs, Glanzmann's thrombasthenia and deafness of internal ear. These are features of a probable genetically determined syndrome, which can be differentiated from other radial defect syndromes. Like in typical Glanzmann's thrombasthenia, our patient showed severely reduced concentrations of glycoprotein IIb-IIIa. The patient's parents revealed reduced concentrations of glycoprotein IIb-IIIa and were considered to be heterozygotes. Thus autosomal recessive inheritance of the bleeding disorder was demonstrated. As a consequence we suppose that the complete syndrome follows this way of inheritance.

Abnormalities, Multiple↗

PubMedDate not supplied

[An enlarged neck fold: a sonographic marker of Down's syndrome].

We report about one case of twin pregnancy where one fetus is healthy and the other has Trisomie 21. The one large skin fold on the neck is observe in the ultrasound. This ultrasound finds is noticed in the Ullrich-Turner-Syndrome as well as in the Down Syndrome. The Trisomie 21 was ascertained after the birth. The clinical meaning of this sonographic criterium will be discussed in this paper.

Adult↗

PubMedDate not supplied

Cervical disk syndromes: value of metrizamide myelography and diskography.

This paper reports on the respective diagnostic values of myelography with water-soluble contrast media and diskography in a study of 100 patients examined between 1979 and 1981 and operated on because of cervical disk disease. The results of the study led to a change of the diagnostic procedures formerly applied in radicular syndromes (i.e., diskography, and then perhaps myelography) and in cervical myelopathy (myelography, rarely followed by diskography). Now cervical metrizamide myelography is always performed first. Diskography is only indicated in radicular syndromes to determine the segment causing clinical symptoms when there is a polysegmental space-occupying lesion on the myelogram in combination with a mono- or oligoradicular neurologic symptomatology; or in the case of a normal myelogram with complaints resistant to conservative treatment.

Cervical Vertebrae↗