Presentation
Gastrointestinal
- Bilious Vomiting
He presented with fever, failure to thrive, abdominal distension, and loose stools with non bilious vomiting. He was found to be dehydrated and febrile with the left kidney palpable, and mild hepatomegaly was felt. [cags.org.ae]
- Failure to Thrive
He presented with fever, failure to thrive, abdominal distension, and loose stools with non bilious vomiting. He was found to be dehydrated and febrile with the left kidney palpable, and mild hepatomegaly was felt. [cags.org.ae]
Liver, Gall & Pancreas
- Hepatomegaly
He was found to be dehydrated and febrile with the left kidney palpable, and mild hepatomegaly was felt. [cags.org.ae]
Face, Head & Neck
- Narrow Face
Other abnormalities that have been found in association with BOR syndrome are narrowing of the tear duct in the eyes interfering with the normal flow of tears; a long narrow face; cleft palate; paralysis of certain muscles in the face; and/or a deep overbite [rarediseases.org]
Workup
X-Ray
- Small Kidney
Other phenotypes include renal duplication, small kidneys, ureteropelvic junction obstruction, hydronephrosis, and renal dysplasia. These abnormalities can result in kidney damage, and possibly renal failure (summary by {19:Vivante et al., 2015}). [monarchinitiative.org]
Variants renal adysplasia (association unilateral renal agenesis and controlateral renal dysplasia) hypoplastic renal dysplasia (small kidneys with extensive renal dysplasia) aplastic renal dysplasia (association of a renal dysplasia and unilateral renal [humpath.com]
If a child's kidneys are very small, kidney function may decrease as the child enters teenage years. Kidney failure may occur, which would call for supportive measures. [urologyhealth.org]
Hypoplasia usually occurs because inadequate ureteral bud branching causes an underdeveloped, small kidney with histologically normal nephrons. If hypoplasia is segmental, hypertension can occur, and ablative surgery may be needed. [msdmanuals.com]
Serum
- Abnormal Renal Function
Renal Function 1693 Endocrine and Growth Disorders in Chronic Kidney Disease 1713 Chronic Kidney Disease Mineral and Bone Disorder 1755 Peritoneal Dialysis 1785 Hemodialysis 1817 Transplantation Immunobiology 1835 Pediatric Kidney Transplantation 1867 [books.google.de]