CONTEXT Agenesis of the dorsal pancreas is a rare congenital anomaly which can be detected either incidentally during imaging or encountered during investigation for pancreas related pathologies such as pancreatitis or diabetes mellitus. Few associations of this condition with heterotaxy syndrome, pancreatic tumors and congenital heart disease have been described. CASE REPORT We report a nove...

Tracheal agenesis is a rare congenital airway anomaly which presents as an airway emergency at birth. We report a case of late premature Chinese infant with tracheal agenesis type II (by Floyd's classification) who presented with severe respiratory distress at birth. He had multiple failed attempts at intubations with accidental oesophageal intubation and ventilation. Tracheal agenesis with tra...

Congenitally missing teeth are the most commonly seen dental anomalies. Agenesis of the permanent first molar has the least frequency of all the tooth types, and it usually occurs in association with oligodontia or anodontia. Thus, agenesis of the bilateral maxillary first permanent molar is an extremely rare occurrence, and no such case has been reported in ethnic Saudi Arabian population. We ...

The purpose of this study was to investigate the effect of tooth agenesis on dentofacial structures according to the location of the absent teeth. A total of 74 subjects were classified to three main groups and four subgroups according to the location of the absent teeth. Thirteen subjects without tooth agenesis were selected as the control group. All subjects were evaluated cephalometrically. ...

The post-natal development of 6 patients with complete agenesis of the corpus callosum was assessed. The diagnosis of agenesis of the corpus callosum had been suspected prenatally in 3 cases. In the remaining 3 cases diagnostic neuro-imaging was performed because of partial seizures (n = 2) and pendular nystagmus (n = 1). The neurological examination was normal in all patients with the exceptio...

A father and son with agenesis of the corpus callosum are described. An 11-year-old boy underwent clinical examination because of poor school performance. On physical and mental examinations he was normal, except for an enlarged head. Computerized tomographic (CT) scan showed agenesis of the corpus callosum. The patient's father also had an enlarged head. Although he had never had any symptoms,...

Associated congenital anomalies are seen in 21% of retrocaval ureter patients; among them, associated contralateral renal agenesis is a very rare entity. We report one such case of right circumcaval ureter with left renal agenesis, diagnosed after febrile UTI. Surgical correction with uretero-ureterostomy was successful. In literature very few such cases are reported and only one case with rena...

Bilateral renal agenesis leads to anhydramnios and other sequelae including pulmonary hypoplasia. There have been rare case reports of normal pulmonary function in the presence of bilateral renal agenesis in monoamniotic discordant twins, but this has never been reported in a singleton pregnancy. The few reported cases in twins have all been fatal in the neonatal period with no reported cases o...

Pulmonary artery agenesis is one of several diagnostic possibilities which may present with similar chest roentgenographic features, including unilateral pulmonary hypoperfusion and nonvisualization of a pulmonary artery. We have applied ventilation and perfusion scintiphotography as an aid in differentiating agenesis from the other conditions with which it may be confused. Four patients presen...

BACKGROUND Dental agenesis is the most common, often heritable, developmental anomaly in humans. Mutations in MSX1, PAX9, AXIN2 and the ectodermal dysplasia genes EDA, EDAR and EDARADD have been detected in familial severe tooth agenesis. However, until recently, in the majority of cases (∼90%) the genetic factor could not be identified, implying that other genes must be involved. Recent insigh...