Deficiency of the human short stature homeobox-containing gene (SHOX) has been identified in several disorders characterized by reduced height and skeletal anomalies such as Turner syndrome, Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia as well as isolated short stature. SHOX acts as a transcription factor during limb development and is expressed in chondrocytes of the growth plat...

A single heat shock, given to 2-day-old chick embryos, can generate multiple but discrete somite and skeletal anomalies. Each of these anomalies is restricted to one, or at the most two, consecutive segments. The anomalies are separated from each other by a distance of 6-7 somites or vertebrae, or a multiple of this distance. These results argue against the 'clock and wavefront' model; while th...

To estimate incidence of cleft lip and cleft palate among Jordanian infants and to identify associated anomalies, we carried out a prospective, hospital-based study over a 5-year period, January 2000-January 2005. The total number of liveborn infants was 25 440, 60 of whom (2.4/1000) had facial clefts: 20 (33%) with cleft lip, 15 (25%) with cleft palate and 25 (42%) with both. Congenital heart ...

Clefts are common birth defects. They are accompanied by various malformations, including disturbances in facial look as well as skeletal disorders that include malocclusions, most frequently crossbites and class III anomalies. The aim of the study was to present the commonest malocclusions in patients with total cleft of the lip, alveolar bone and palate (n = 154) and compare the results to th...

Hyper-immunoglobulin E (IgE) is a disorder of immune system characterized by assemblage symptoms including recurrent skin and pulmonary infections, skeletal anomalies elevated serum IgE (>2000 IU/ml). More recently, apart from the typical features, neurological manifestations have also been described central nervous facial nerve palsy demyelinating disorders. Here we describe three patients ...

Gorlin-Goltz syndrome is an uncommon disorder transmitted through autosomal dominant inheritance. This syndrome is characterized by multiple odontogenic keratocysts, along with congenital skeletal anomalies and basal cell carcinomas. A 16-year-old girl was admitted with a complaint of swelling on the lower jaw. She had multiple basal cell nevi on both hands. Multiple lytic bone lesions on radio...

AIM The interception of a Class III malocclusion requires a long-term growth prediction in order to estimate the subject's evolution from the prepubertal phase to adulthood. The aim of this retrospective longitudinal study was to highlight the differences in facial morphology in relation to the direction of mandibular growth in a sample of subjects with Class III skeletal anomalies divided on t...

Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typica...

OEIS complex is one of the congenital anomalies not compatible with life. It comprises of omphalocele, exstrophy of the cloaca, imperforate anus and spinal defects with incidence of 1:100,000 live births. It can be associated with other anomalies of urinary tract, genital tract, skeletal defects variably. Diagnosis can be done prenatally by ultrasonography. We present a case of OEIS complex wit...

Teeth organogenesis develops through a well-ordered series of inductive events involving genes and BMP, FGF, SHH and WNT represent the main signalling pathways that regulate epithelial-mesenchymal interactions. Moreover, progress in genetics and molecular biology indicates that more than 300 genes are involved in different phases of teeth development. Mutations in genes involved in odontogenesi...