A 20-week fetus was diagnosed with tetralogy of Fallot and multicystic kidneys. The postmortem study showed missing müllerian structures with small streak ovaries, external male genitalia, and an abnormal cloacal septation (imperforate anus with a sigmoid colon opening in the bladder). As the observed anomalies were related with septation, a mechanism related with the activation of specific gro...

BACKGROUND A number of syndromes÷associations involving the caudal region have been described in the literature. Each of them is characterized by a set of morphological features. Reports on difficulties in delineation and an ever-increasing constellation of defects in recent past call for a comprehensive study into the morphologic presentations and pathogenesis of caudal embryonic defects. MA...

A 4-year-old girl with history of polydactyly and imperforate anus surgeries presented with short stature. Brain MRI revealed a large hypothalamic hamartoma (figure). Pallister-Hall syndrome (PHS) was diagnosed. Biopsy was not indicated given stable and typical tumoral appearance. Annual evaluations, hormonal replacement, and medical genetics consult were recommended. Compared to sporadic hypot...

BACKGROUND Tailgut cyst (TGC) is a rare congenital lesion that originates from remnants of the embryonic post-anal gut. It presents as a multilocular presacral mass mainly in young women. Microscopically, the cyst lining is composed of different types of epithelium such as stratified squamous, transitional, or glandular. CASE PRESENTATION We present a term female newborn referred to our hospi...

A conjoined twin is one of the rare congenital defects. Ischiopagus variety is even rarer. We present a case of ischiopagus-tripus conjoined twins. They were fused at the lower halves of the bodies. One of the twins was apparently normal looking, active and pink. The other twin was small, ill looking, sluggish and cyanosed. There were two well formed separate lower limbs on one side and a fused...

Acute urinary retention in adolescent females is rare, just like imperforate hymen. We present a case of acute urinary retention secondary to imperforate hymen in a 14-year-old Nigerian girl. Its diagnosis and treatment are discussed with a brief review of literature. We highlight the need for a thorough evaluation in the female patient presenting with acute urinary retention, and also the need...