Failure to develop complete dentition, tooth agenesis, is a common developmental anomaly manifested most often as isolated but also as associated with many developmental syndromes. It typically affects third molars or one or few other permanent teeth but severe agenesis is also relatively prevalent. Here we report mutational analyses of seven candidate genes in a cohort of 127 probands with non...

OBJECTIVE To explore the relationship between single nuclear polymorphisms (SNPs) in ectodysplasin A receptor (EDAR) and EDAR-associated death domain (EDARADD) genes and non-syndromic tooth agenesis. METHODS Ten putative SNPs in EDAR and EDARADD were selected, and a case-control study was conducted in 112 subjects with non-syndromic tooth agenesis and 112 normal control subjects. DNA was obta...

OBJECTIVE To determine the prevalence of hypodontia in the general population and orthodontic population in adolescent Chinese Hans. METHODS Two groups named the general population (6015 subjects) and the orthodontic population (2781 subjects) were investigated, respectively. The former came from the students of three general universities in North China and the latter came from patients comin...

To cite: Rigon G, Vallone C, Silvestri E, et al. BMJ Case Reports Published online: [please include Day Month Year] doi:10.1136/ bcr-2012-007941 DESCRIPTION A surviving sirenomelia with renal agenesis was followed by a caudal mesodermal malformation in a subsequent pregnancy. A 29-year-old prediabetic overweight woman was diagnosed with fetal sirenomelia after an MRI study following an inconclu...

Agenesis of the left common carotid artery with independent origins of the internal and external carotid arteries arising directly from the aortic arch is an extremely rare congenital anomaly. We present MR angiographic findings in a case with agenesis of left common carotid artery that, to our knowledge, is unique by virtue of its detection and description with MR angiography.

Rectal biopsy in a case of lumbosacral agenesis showed the presence of autonomic nerve elements normally supplied by spinal levels distal to the agenesis. Certain implications are suggested regarding the embryogenesis of this condition from data about the development of neural, bony, and muscular elements. Recommendations regarding management are given.

We report a case of rubeosis iridis resulting from agenesis of the internal carotid artery. Agenesis of the internal carotid artery is a rare congenital anomaly, and most patients do remain asymptomatic, but we should realize that this condition may lead to ocular ischemic changes, the result being rubeosis iridis.

in studies on teratogenesis. Fetuses afflicted with holoprosencephaly, including varying degrees of such malformations as pituitary agenesis, cyclocephaly, cyclopia and monorhinia, can be obtained by administering triparanol or AY 9944 which inhibits cholesterol synthesis. A large number of fetuses have a minor form of holoprosencephaly, i.e. limited to isolated hypophyseal agenesis. We used th...

Pulmonary agenesis is a well-known but rare congenital anomaly of the respiratory system. It represents failure of development of the primitive lung bud. We are reporting bilobar agenesis of the right lung associated with multisystem involvement in an adult patient.

Seminal vesicle cysts are a very rare condition and its often associated with ipsilateral renal agenesis. The diagnosis of seminal vesicle cysts may be delayed or missed because of the non-specific symptoms of this condition. This article reports a triad of right renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction (Zinner syndrome) in a 56 years old man.