Scrotoschisis: An extremely rare congenital anomaly

Acalvaria: An Extremely Rare Congenital Skull Malformation

Acalvaria defined as absent skull bones, is an extremely rare congenital anomaly with only a handful of cases reported in literature. In this report we presented a male newborn case of acalvaria referred to our hospital (Shahid Motahari hospital of Urmia, Iran). The condition per se has been described as having high mortality rate. Very few living cases, less than ten, have been reported till now.

Bilateral extracorporeal testicular ectopia: An extremely rare congenital anomaly

Pentalogy of Cantrell: An Extremely Rare Congenital Anomaly

A baby with the complete form of pentalogy of Cantrell was delivered at 33 weeks of gestation. The hallmark of this syndrome is ectopia cordis (EC) with omphalocele. Even though a fetal diagnosis was made at 14 weeks, parents have decided to continue with the pregnancy. Early antenatal ultrasonographic diagnosis is essential as survival depends mostly on the EC, associated cardiac anomalies and...

Congenital Agenesis of the Internal Jugular Vein: An Extremely Rare Anomaly

Vascular anomalies of major venous vessels are rarely seen. Moreover, congenital absence of internal jugular vein is extremely uncommon. In our case, a female patient presented with primary unknown left cervical mass. Cervical ultrasonography demonstrated absence of right internal jugular vein. In addition, computed tomography and dynamic magnetic resonance imaging scans confirmed this diagnosi...

Thanatophoric Dysplasia; a Rare Case Report on a Congenital Anomaly

The rare form of skeletal dysplasia is thanatophoric dysplasia. The meaning for thanatophoric dysplasia is death bearing which is derived from Greek word. It occurs 1in 20,000 to 50,000. It is mainly due to mutations in the fibroblast growth factor receptor 3gene. Features of thanatophoric dysplasia are frontal bossing, prominent eyes, narrow thorax, protruded abdomen and bowed legs. The knowle...