Hypohidrotic ectodermal dysplasia with tibial aplasia.

Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1. Am J Hum Genet (2006) 1.12

A review of supernumerary and absent limbs and digits of the upper limb. Surg Radiol Anat (2011) 0.80

A patient with unilateral tibial aplasia and accessory scrotum: a pure coincidence or nonfortuitous association? Case Rep Med (2010) 0.77

A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review. Cases J (2008) 0.75

Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia. Afr Health Sci (2005) 0.75

Atlanto-axial segmentation defects and os odontoideum in two male siblings with opsismodysplasia. Skeletal Radiol (2008) 0.91

A novel form of ischio-vertebral syndrome. Skeletal Radiol (2006) 0.90

Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity? Am J Med Genet A (2007) 0.90

Early results of the Ponseti method using the Steenbek foot abduction brace: a prospective study of 95 feet. J Pediatr Orthop B (2008) 0.89

Magnetic resonance evaluation of acetabular residual dysplasia in developmental dysplasia of the hip: a preliminary study of 27 patients. J Pediatr Orthop (2009) 0.89

A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome. Skeletal Radiol (2008) 0.79

Familial vertebral segmentation defects, Sprengel anomaly, and omovertebral bone with variable expressivity. Am J Med Genet A (2005) 0.79

Radiographic and tomographic analysis in patients with stickler syndrome type I. Int J Med Sci (2013) 0.79

Siblings with glaucoma, mental retardation and short stature. Clin Dysmorphol (2003) 0.78

Progressive non-infectious anterior vertebral fusion, split cord malformation and situs inversus visceralis. BMC Musculoskelet Disord (2006) 0.78

Complementation in a 45,X/47,XX,+14 patient? Clin Dysmorphol (2008) 0.75

Corrections of lower limb deformities in patients with diastrophic dysplasia. Orthop Surg (2014) 0.75

Split hand/split foot deformity with focal dermal hypoplasia (Goltz syndrome). J Coll Physicians Surg Pak (2010) 0.75

Distinctive tomographic features of atlantoaxial dislocation in a boy with acromesomelic dysplasia du Pan syndrome. Clin Dysmorphol (2009) 0.75

Multi slice computed tomography approach in the assessment of supracondylar humeral fractures in children. Acta Orthop Belg (2012) 0.75

Is webbing (pterygia) a constant feature in patients with Escobar syndrome? Orthop Surg (2013) 0.75

How frequent is osteogenesis imperfecta in patients with idiopathic osteoporosis?: Case reports. Medicine (Baltimore) (2017) 0.75