an investigation was carried out on a young unrelated couple, both 29 years old, with two boys and three girls, 3 months to 8 years old. one boy and the mother were healthy, the other four children and the father were affected. the family, originally from the district of nour, in northern iran, near the caspian sea, was first counseled at the genetic clinic in tehran in 1984. several trips were...

Synostosis or osseous union of any 2 adjacent bones can involve any part of the body. Synostosis between radius and ulna can take two forms, congenital and post Synostosis is a very rare congenital anomaly and most cases a post-traumatic, bilateral in 60% and more common in males. It is often part of syndromes such as Crouzon, Apert's and Poland's,4p Bixler syndrome, Genito multiple osteochondr...

Congenital proximal radioulnar synostosis is a rare congenital anomaly that can be extremely disabling, especially when it occurs bilaterally or if there is severe hyperpronation. Currently, osteotomy to achieve a neutral or slightly pronated position is widely accepted for the management of patients who have severe pronation. The present study evaluates the result of two-stage double-level rot...

Radioulnar synostosis is a rare pathological fusion of the tow forearm bones, when seen in pediatric must differentiate between congenital Synostosis versus post traumatic synostosis, radioulnar uncommon especially if it was closed fracture and treated conservatively. We describe 5 year old girl who presented with 1 following radial head subluxation, full pronation limitation supination compens...

OBJECTIVE Surgery for craniosynostosis has evolved rapidly over the past two decades, with increased emphasis on early, extensive operations. Older published series may not accurately reflect more recent experience. Our study was designed to analyze outcome in a large series of consecutive patients treated recently at a single center. METHODS We reviewed 250 consecutive patients who underwent...

during the last 10 years, we have had 11 cases of radioulnar (ru) synostosis, a very rare congenital amomaly of the upper extremity. only 3 of them required surgical intervention. so we evaluated these three cases of proximal radioulnar synostosis corrected by proximal derotational osteotomy. the indication for surgery was severe pronation deformity that caused functional problem. mean age at t...

Syndactyly type I is an autosomal dominant condition with complete or partial webbing between the third and fourth fingers or the second and third toes or both. We report here a previously undescribed phenotype of severe mesoaxial syndactyly and synostosis in patients born to affected parents. The characteristic features of these severe cases are (1) complete syndactyly and synostosis of the th...

Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that shows greater severity in females and is largely attributed to mutations in EFNB1. A 7-year-old boy presented with hypertelorism, broad nasal root, midfacial hypoplasia, mandibular prognathia, ptosis, and scaphocephaly was clinically diagnosed with CFNS. Three-dimensional computed tomographic scans confirmed the isolated sagitta...

In children with craniosynostosis, raised intracranial pressure (ICP) and upper airway obstruction (UAO) are both common features. However, potential interactions between UAO and ICP during sleep are poorly understood. The aim of the present study was to compare the levels of ICP during sleep between a group of patients with syndromic craniosynostosis (with facial involvement and consequent UAO...