Larsen's syndrome is a variable disorder known to geneticists and orthopedic surgeons, but not to many other specialists. Patients with Larsen's syndrome have hypertelorism and multiple ...

Arthrogryposis multiplex congenita is a nonprogressive disease that consists of two or more different joint contractures present at birth. There are more than 150 different conditions tha ...

Marfan syndrome is a well-defined clinical disorder with extensive phenotypic variability. Marfan syndrome affects approximately 1 in 5,000-10,000 persons. In addition, many persons show ...

Stickler syndrome was first described by Gunnar Stickler and colleagues at the Mayo Clinic in 1965.1 They reported a unique autosomal dominant condition in a family with midfac ...

Bladder exstrophy is part of a spectrum of anomalies that may involve the bladder, pelvis, intestinal tract, and external genitalia. The most common form of bladder exstrophy is classic exstrophy, ...

Dysplasia epiphysealis hemimelica, also known eponymically as Trevor's disease, is a localized osteochondral overgrowth involving single or multiple epiphyses or ossification centers. (Slide) The ...

Constriction band syndrome is also known as amniotic band syndrome or Streeter's dysplasia. The details of etiology are unknown but relate to in utero bands or strands of tissue that may encircle ...

Ehlers-Danlos syndrome (EDS) is a family of disorders caused by a variety of defects in collagen metabolism (Slide 1). The cardinal feature, common through all subtypes of this syndrome, ...

Pseudoachondroplasia was one of the first rhizomelic short stature conditions distinguished from achondroplasia. Pseudoachondroplasia involves the metaphyses, the spine, and the epiphyses ...

Orthopedic surgeons must be familiar with multiple epiphyseal dysplasia because this disorder is often subtle, variable, and unrecognized initially. Multiple epiphyseal dysplasia affects ...