Following in the footsteps of Billard and Ballantyne, Edith Potter founded from the 1930s onwards the modern subspecialty of perinatal pathology. Her name is eponymously linked with the facial characteristics of infants with bilateral renal agenesis.

Sirenomelia is an uncommon congenital malformation. We describe a newborn with clinical features of sirenomelia with fused lower limbs, anal atresia, bilateral renal agenesis and a single umbilical artery.

Case series summary A queen, tom and four 1-year-old female offspring presented for routine neuter. Two of the littermates (cats 1 and 2) were diagnosed with a uterine abnormality during surgery. The left uterine horn of both cats appeared as a thin, solid, cord-like structure, whereas the right uterine horn of both cats appeared to have intermittent bulges consistent with pregnancy. The two ot...

49,XXXXY is a rare sex chromosome polysomy with an incidence of 1 in 85 000 male births. It has a characteristic triad of mental retardation, skeletal malformation and hypogonadism. This is the first case report of a child with 49,XXXXY syndrome and renal agenesis. This child was referred for genetic testing at 14 years of age due to facial dysmorphism and hypergonadotropic hypogonadism. He had...

The ACI rats developed hereditary renal malformations including agenesis and hydronephrosis at moderate penetrance. During construction of a variety of congenic strains based on ACI/Mna (ACI), BUF/Mna (BUF), and WKY/NCrj (WKY) rats, we found that the renal malformations were significantly suppressed by introgression of a segment of chromosome 13 of BUF rats containing Pur1 locus. It is plausibl...

Meckel-Gruber Syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of central nervous system malformation (occipital encephalocele), post-axial polydactyly, and enlarged polycystic kidney dysplasia. With a recurrence risk of 25% this lethal syndrome can be detected in early screening by ultrasound. However, to the authors' knowledge, association of MKS with unilater...

Uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis (OHVIRA Syndrome) is a rare congenital anomaly of the female genital tract. Uterus didelphys occurs when the midline fusion of the mullerian ducts is arrested, either completely or incompletely. Women with didelphic uterus may be asymptomatic and unaware of having a double uterus. They may present with complaints of dysm...

BACKGROUND Congenital pouch colon, also known as congenital short colon or "Pouch colon syndrome", is a rare condition that occurs in association with anorectal malformations; colon is either partially or completely replaced by pouch-like dilatation and communicates with the urogenital tract by means of a fistula. This anomaly is exclusively seen in Northern parts of India with only a few cases...

Seminal vesicle cyst is an extremely rare disease. Its association with ipsilateral renal agenesis is even more exceptional. We present herein one case of a 16-year-old male who presented with a four-month history of lower urinary tract symptoms (LUTSs) and micturition pain. The digital rectal examination revealed a small mass arising from the prostate. The urine culture showed that E. coli is ...