This article reports the largest familial aggregation of Chiari malformation in a single family to date as reported in the literature. This study is a retrospective case series of a family of whom five individuals have a confirmed case of Chiari malformation and three additional individuals have Chiari signs and symptoms. This contribution further supports the implication of genetics in the tra...

A 23year-old Thai female presented with skin laxity and delayed wound healing. Physical examination revealed asymmetry of face and hypertelorism of both eyes. Microtia of right ear, right periauricular pit, multiple fish mouth and cigarette paper scars were found. There were hyperextension of elbows and knees, 10 degrees and 15 degrees, respectively, Passive hyperflexion of the 5th finger more ...

A 46-year-old female patient with Ehlers-Danlos Syndrome had undergone fusion of her right knee 25 years before presentation. This markedly affected her quality of life. She underwent a two-stage conversion to a constrained rotating-hinge total knee arthroplasty. She regained a satisfying range of motion and she has a painfree, mobile and stable knee at 42 months follow-up. Conversion of knee f...

Bindegewebskrankheiten oder klassische Stoffwechselkrankheiten gehören zu den seltenen Krankheiten und sind in der Regel Multisystemerkrankungen. Beide Krankheitsgruppen werden am Kinderspital Zürich inter- multidisziplinär betreut. Im Folgenden wird anhand konkreter Problemstellungen des kyphoskoliotischen Ehlers-Danlos-Syndroms (kEDS) die interdisziplinäre Zusammenarbeit an Universitätsklinik...