Biomedical subjects
Publications and source records attributed to M Zankl.
Only a few reports of congenital meatal atresia and microtia have been published. Dominant as well as recessive inheritance has been suggested. We report a family with five affected members in two generations. An irregularly dominant transmission seems to be the most likely explanation.
This paper shows that the study of dermatoglyphics is an objective aid in the clinical diagnosis of chromosomal dysmorphic syndromes. The dermatologlyphic patterns of four patients with trisomy 9p were analyzed and compared with dermatoglyphic data from 63 published case reports on the condition. We consider that the following traits constitute the combination of dermatoglyphic patterns that is specific to trisomy 9p: an excess of arches on the fingertips and toes, a low total finger ridge count, the absence of digital triradii b and c, and the presence of zygodactylous triradii z, z' and z'', a simian crease, a single crease on the 5th finger, a hypothenar crease, a distally placed axial triradius t', a proximal or tibial arch or both on the hallux, and increased intensity of the plantar patterns. A "phantom picture" is constructed, which can be used for dermatoglyphic diagnosis of the trisomy 9p syndrome.
The arterial tortuosity syndrome is a rare congenital disorder characterized by elongation and generalized tortuosity of the major arteries including the aorta. Associated clinical features consist of excessively stretchable skin and joint laxity which is indicative of a connective tissue disorder such as Ehlers-Danlos or Cutis laxa syndrome. The gene locus of the arterial tortuosity syndrome has recently been localised on chromosome 20q13; inheritance ist autosomal recessive. - We report on a newborn with arterial tortuosity syndrome and hiatal hernia, bilateral hip dislocation, inguinal hernias and diffuse tortuosity of the great arteries including the aorta. Known gene loci involved in Ehlers-Danlos syndrome, cutis laxa syndrome and other connective tissue disorders were excluded by specific DNA markers. By homozygosity mapping with polymorphic microsatellite markers it was possible to confirm the gene locus for the ATS on chromosome 20q13. In addition to the presentation of this patient, a review of the literature is presented.