Defects in cilia formation and function result in a range of human skeletal and visceral abnormalities. Mutations in several genes have been identified to cause a proportion of these disorders, some of which display genetic (locus) heterogeneity. Mouse models are valuable for dissecting the function of these genes, as well as for more detailed analysis of the underlying developmental defects. T...

Introduction: Cervical rib is relatively uncommon congenital abnormality that originates from the seventh cervical vertebrae and rarely from the sixth vertebrae. The purpose of this paper is to consider that this abnormal condition is an important cause of neurovascular compression at the thoracic outlet. Methods: In this study all patients who were referred to radiology departm...

nevoid basal cell carcinoma syndrome (bcns) is an autosomal dominant inherited disorder. multiple organ systems may be affected in this syndrome including abnormalities of the skin, skeletal system, genitourinary system and central nevus system. in this report, we present a case of nevoid basal cell carcinoma syndrome in a 26-year-old male patient. the patient had multiple odontogenic keratocys...

Abstract: Background: Ellis–Van-Creveld syndrome (EVC), otherwise known as chondroectodermal dysplasia. EVC presents several skeletal manifestations and congenital heart malformations. EVC syndrome consists of a tetrad of principal features: chondroectodermal dysplasia, polydactyly, congenital heart defects, and hypoplastic nails and teeth. In this syndrome alteration in the mechanical proper...

Purpose: Historically the classification of Thoracic Outlet Syndrome (TOS) has been based on symptoms rather than underlying pathology. Therefore, TOS classified into Neurogenic (NTOS), Venous (VTOS or Paget Schroetter Syndrome) and Arterial (ATOS) subgroups. This resulted in confusion among medical practitioners, difficulty making diagnosis, poor results with surgical intervention. Methods: Th...

A family with the EEC syndrome is reported. Two sibs have the classical form of the condition with ectrodactyly, ectodermal dysplasia, and clefting. Their mother, however, has only minimal evidence, with preaxial polydactyly of the right hand and duplication of the terminal phalanx of the second toe of the left foot with 3/4 syndactyly. The dilemmas faced by the genetic counsellor are discussed...

A male infant with partial deletion of the short arm of chromosome 3 is described. The features this patient shares with six previously reported cases include microcephaly, dolichocephaly, micrognathia, epicanthic folds, ptosis, low set or malformed ears, postaxial polydactyly, and growth or mental retardation or both. In addition, visceral anomalies not previously reported in association with ...

Meckel-Gruber syndrome (MKS) is a lethal, autosomal recessive transmitted anomaly, characterized by the ultrasound triad: occipital meningoencephalocele, bilateral polycystic kidney, postaxial polydactyly. The incidence is between 1÷13 250 and 1÷140 000 live births, being a rare anomaly. We report a MKS case of feminine gender diagnosed on two ultrasound findings (bilateral polycystic kidney, o...

Preaxial polydactyly (PPD) is inherited in an autosomal dominant fashion and characterized by the presence of one or more supernumerary digits on the thumb side. It had been identified that point mutation or genomic duplications of the long-range limb-specific cis-regulator - zone of polarizing activity regulatory sequence (ZRS) cause PPD or other limb deformities such as syndactyly type IV (SD...