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...

Alias Multiple cutaneous and uterine leiomyomatosis (MCUL) Hereditary leiomyomatosis and renal cell cancer (HLRCC) Note Multiple cutaneous leiomyomatosis (MCUL) is characterized by multiple leiomyomas of the skin and uterus. When associated with renal cell cancer, this syndrome is referred to as hereditary leiomyomatosis and renal cell cancer (HLRCC). Inheritance Autosomal dominant with incompl...

β-thalassemia is one of the most common hereditary diseases in Egypt. The leading causes renal dysfunction thalassemic patients include chronic anemia, iron overload from repeated blood transfusions, and kidney-induced damage use chelators.

     Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...

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...