Polydactyly of the hands or feet is a common birth deformity. We recently encountered a female infant with a case of a crossed type 1 polydactyly with a mixed polydactyly of the feet. A mixed and crossed polydactyly is a rare finding with only one other reported case. This is the first report of crossed and mixed polydactyly of the feet presenting with 7 complete toes on each foot without synda...

Thoracic insufficiency syndrome is the inability of the thorax to support normal respiration or lung growth. One treatment to address the thoracic deformities associated with the syndrome is placement of a vertical expandable prosthetic titanium rib. The goal is to restore thoracic volume, symmetry, and function and to allow for growth of the thorax in skeletally immature children. The main top...

Neurogenic thoracic outlet syndrome (nTOS) resulting from an isolated first rib fracture is extremely infrequent. We report a case of performance limiting nTOS in a college athlete who was initially evaluated and treated for upper extremity ligamentous injury with only transient improvement. Subsequent noninvasive studies were consistent with TOS physiology and MRA showed a large hypertrophic c...

Laurence-Moon Biedl (LMB) syndrome is an autosomal recessive genetic disorder, characterized by structural and functional abnormalities of organs [1]. This syndrome was first described by Laurence and Moon in 1866 [2]. This syndrome is also called Bardet-Biedl syndrome (BBS) as Bardet and Biedl added additional polydactyly feature [3]. The estimated incidence is 1:160,000 in northern European p...

A 39-year-old man presented with multiple basaloid follicular hamartomas involving the right side of his body in a systematized pattern following Blaschko's lines. His right leg was 22.5 cm shorter than the left, and rudimentary pre-axial polydactyly was noted on the left hand and the right foot. The teeth of the right maxilla were hypoplastic. DNA analysis of blood lymphocytes and fibroblasts ...

Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. BBS expression varies both within and between families and diagnosis is often diYcult. We sought to define the condition more clearly by studying 109 BBS patients and their families, the largest popu...

Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia, a rare autosomal recessive disorder, is a tetrad of chondrodysplasia, ectodermal dysplasia, polydactyly, and congenital heart disease, of which chondrodystrophy of the tubular bones is the most common feature, while central nervous system (CNS) and urinary tract anomalies are some of its rarer associations. This report describes E...

Bardet-Biedl syndrome (BBS) is one of the rare autosomal recessive disorders that affect multiple organs of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. We present a case of BBS with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental ...