Studies in mice demonstrated that the Shh gene is crucial for normal development of both incisors and molars, causing a severe retardation in tooth growth, which leads to abnormal placement of the tooth in the jaw and disrupted tooth morphogenesis. In humans the SHH gene is located on chromosome 7q36. Defects in its protein or signaling pathway may cause holoprosencephaly spectrum, a disorder i...

Absence of the maxillary lateral incisor creates an aesthetic problem which can be managed in various ways. The condition requires careful treatment planning and consideration of the options and outcomes following either space closure or prosthetic replacement. Recent developments in restorative dentistry have warranted a re-evaluation of the approach to this clinical situation. Factors relatin...

Tracheal agenesis is a rare cause of respiratory distress in the neonatal period. Temporary survival depends on ventilation through the esophagus. Thirty-eight case reports of tracheal agenesis (including one from this institution) have appeared in the literature. In this paper, we present the case reports of our 2 patients and review the literature. Tracheal agenesis is associated with a wide ...

A 46 yr old female came to the ENT department of Sree Balaji Medical College and Hospital, Chennai, India, with minimal painless swelling in the bilateral cheek and left submandibular region for two months, in September 2014. The patient had no significant medical history other than multiple carious tooth extractions. Bimanual palpation could not locate the submandibular gland on the right side...

Objective: The purpose of this study was to evaluate the width/length ratio and the gingival zenith (GZ), by means of dental casts and digital caliper, in patients with missing maxillary lateral incisors after treatment. Methods: The sample was composed of 52 subjects divided into 3 groups: BRG (n = 18), patients with bilateral agenesis treated with tooth re-contouring; BIG (n = 10) patients wi...

Although congenital diaphragmatic hernia is one of the most common congenital anomalies, complete bilateral agenesis of the diaphragm is a very rare congenital malformation and frequently associated with other major anomalies. We report a case of bilateral diaphragmatic agenesis associated with major congenital anomalies. A 2,240-g male infant was born at 35 weeks of gestation to a 34-year-old ...

BACKGROUND The aim of this study was to determine the association between facial pattern according to Ricketts cephalometric analysis, and prevalence of third molar agenesis, taking subject age and gender as control variables. MATERIAL AND METHODS An epidemiological survey was conducted based on a sample of 224 candidates for orthodontic treatment aged 12 to 24 (n=224). Third molar agenesis w...

Gallbladder agenesis is a very rare presentation where surgeons were put in situation to diagnose the same during laparoscopy for cholecystectomy or diagnostic laparoscopy. The preoperative diagnosis of gallbladder remains challenge both and radiologists. Here we present case gall bladder 59-year-old male with contracted gallbladder. Agenesis was confirmed after MRCP.

BACKGROUND Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosens...