Uta Burck-Lehmann

Learn More
BACKGROUND/AIMS Androgen insensitivity syndrome (AIS) caused by mutations within the androgen receptor gene represents a variety of phenotypes from females with 46,XY karyotype over individuals with ambiguous genitalia to infertile males. METHODS We studied 24 patients with AIS by sequencing androgen receptor gene. 19 of the investigated patients were(More)
We report the follow-up of a neonate with Pes equinovarus et adductus due to diastrophic dysplasia. The feet have been treated operatively by lengthening of the calcaneal tendon after initial redressement and casting. The normalized position is maintained by means of an removable plastic cast and later an instep raiser. Instructions for the maintenance are(More)
A microvascular lesion characterized by extensive platelet aggregation, thrombosis, vascular damage with hemorrhages was found in the muscle of a 2-month-old boy with a myopathic form of the arthrogryposis syndrome. The lesion morphologically resembled the vascular leakage seen in immunologically mediated tissue injury. A degradative effect of proteases(More)
  • 1