BACKGROUND Cortical dysplasias are rarely associated with vascular anomalies. They are usually associated with venous anomalies or in few cases with both arterial and venous anomalies. METHODS Twenty-six year old female presented with history of headache showed cortical dysplasia associated with pure arterial dysplasia in the absence of any associated venous anomaly. CONCLUSIONS An abnormal...

Congenital renal fusion anomalies, characterized by either partial or complete fusion of the two kidneys, are represented by horseshoe kidney, crossed renal ectopia with fusion and fused pelvic cake kidney. Though these anomalies may remain asymptomatic, in certain cases they may be associated with pathological conditions like nephrolithiasis, hydronephrosis, recurrent urinary tract infections,...

BACKGROUND Persistent left superior vena cava (PLSVC) is a variant of systemic venous return which is observed in 0.3% of autopsies in the general population and in 4-8% of patients with congenital heart disease. AIMS To evaluate associated cardiac, extracardiac and chromosomal anomalies in prenatally diagnosed cases of PLSVC and to review their outcome. STUDY DESIGN Retrospective comparati...

Terms such as oculoauriculovertebral dysplasia, Goldenhar syndrome, and hemifacial microsomia have been used to describe microtia with specific combinations of other craniofacial anomalies. Microtia is also observed with anomalies of postcranial structures. Statistical studies were performed on 297 patients with microtia and other anomalies to identify subgroups of patients representing previou...

Background: VACTERL association is usually a sporadic disorder, the possible etiologies of which have been proposed as familial as well as multiple genetic and environmental factors. VACTERL association usually consists of at least three of the core features of vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. Vertebral anomali...

Background: External genital anomalies are the most common congenital disorders in male infants with unknown etiology in the majority of cases. According to recent reports, incidence rate of these anomalies is rising in different countries. This study aimed to evaluate the prevalence of external genital anomalies and possible underlying factors in male newborns. Methods: This cross-sectional st...

Gastroschisis is often found together with other extra intestinal conditions such as limb, spine, cardiac, central nervous system and genitourinary abnormalities. There are reports of its association with young maternal age. The cases presented here highlight the association of gastroschisis with limbs anomalies and young maternal age.

Orofacial clefts are one of the commonest birth defects, and may be associated with other congenital anomalies. The majority of these orofacial clefts are nonsyndromic . A significant percentage of these clefts both syndromic and non-syndromic may have associated anomalies. Apart from reviewing other studies, this article also analyses a study of associated anomalies from a tertiary cleft centr...

Periventricular heterotopia (PH) is characterized by neuronal nodules along the lateral ventricles. Whereas mutations in X-linked FLNA cause such cortical malformations, the authors report two cases of PH localizing to chromosome 5p. Both subjects have complex partial seizures. MRI demonstrated bilateral nodular PH, with subcortical heterotopia or focal gliosis. FISH identified a duplication of...

Congenital absence of the gall-bladder is a rare condition. It is sometimes associated with other congenital defects. We report here two cases of gall-bladder agenesis discovered at laparoscopy. Both had a history of skeletal and cardiovascular anomalies. The investigation of patients with absent gall-bladder can be very difficult. Ultrasound scanning is usually inconclusive and further noninva...