Transposition of the great arteries (TGA) is the most common cyanotic congenital cardiac anomaly with cyanosis in the first 24 hours of life. It accounts for up to 7% of all congenital cardiac anomalies 1 and can be assessed with echocardiography, gated cardiac CT, or cardiac MRI.
Transverse vaginal (transvaginal) septum (TVS) is a type of rare congenital utero-vaginal anomaly (class II under the Rock and Adam classification).
It is rare with a frequency of 1 in 70,000 females.
In the case of a complete septum, patients commonly pres...
The triangular cord sign is a triangular or tubular echogenic cord of fibrous tissue seen in the porta hepatis at ultrasonography and is relatively specific in the diagnosis of biliary atresia1,2.
This sign is useful in the evaluation of infants with cholestatic jaundice, helping for the diffe...
Tricuspid atresia is a cyanotic congenital cardiac anomaly which is characterised by agenesis of the tricuspid valve and right ventricular inlet. There is almost always an obligatory intra-atrial connection through either an ASD or patent foramen ovale (PFO) in order for circulation to be comple...
Trigonocephaly refers to the triangular appearance of the frontal skull created by premature fusion of the metopic suture (metopic craniosynostosis) 2. Trigonocephaly accounts for around 5% of all craniosynostosis cases.
The metopic suture divides the frontal bones in the midline. ...
Trilateral retinoblastoma refers to the combination of retinoblastoma (usually bilateral) and pineoblastoma. This relationship highlights the close relationship between these highly aggressive small round blue cell tumours.
It affects only a minority of patients with retinoblastoma (1.5-5%) and...
Triphalangeal thumb is considered a form of pre-axial polydactyly.
Triphalangeal thumbs have an incidence of 1 in 25,000 7.
A triphalangeal thumb, as the name implies, has three phalanges instead of the usual two. There is an autosomal dominant genetic transmission 8....
Triplane or triplanar fractures are of the distal tibia only occurring in adolescents. As the physiological closure of the physeal plate begins medially, the lateral (open) physis is prone to this type of fracture. The name is due to the fact of the fracture expanding both in frontal and lateral...
The triple bubble sign is the classic radiographic appearance observed in jejunal atresia 1,2. The appearance is due to a proximal obstruction caused by the atretric jejunum. It is equivalent to the double bubble sign, but a third bubble is seen because of proximal jejunal distention.
Trisomies are chromosomal anomalies which usually occur due to non-disjunction. The vast majority of affected fetuses being spontaneously aborted, often very early during gestation. Only three are compatible with extra-uterine life (T13, T18, T21), and only one beyond early infancy (T21).
Truncus arteriosus is a cyanotic congenital heart anomaly in which a single trunk supplies both the pulmonary and systemic circulation, instead of a separate aorta and a pulmonary trunk. It is usually classified as a conotruncal anomaly.
It accounts for up to 2% of congenital cardiac anomalies ...
Tuberous sclerosis (TS), also known as tuberous sclerosis complex or Bourneville disease, is a neurocutaneous disorder (phakomatosis) characterised by the development of multiple benign tumours of the embryonic ectoderm (e.g. skin, eyes, and nervous system).
Tuberous sclerosis has...
Type II collagenopathies are a group of conditions collectively characterised by abnormalities in synthesis of collagen type II. This usually occurs due to a mutation in the COL2A1 gene.
Entities that fall under this group include:
achondrogenesis type II
platyspondylic lethal skeletal dyspla...
Ulegyria refers to a shrunken and flattened cortex usually due to global hypoxic ischaemic injury in term infants, centering on the deepest portion of gyri, usually in the parasagittal region. It is here that perfusion is most tenuous and, therefore, most susceptible to ischaemic damage.
Ulnar dimelia or mirror hand syndrome is a rare congenital anomaly of the upper limb characterized by absence of the radial ray (including thumb), duplication of the ulna and duplication of the ulnar halves of the carpals, metacarpals and phalanges 1.
The embryology of mi...
Umbilical arterial catheters are used in neonatal care and need to be carefully assessed on all neonatal films.
The catheter should pass through the umbilicus, travel inferiorly through the umbilical artery, then in the anterior division of the internal iliac artery, into the common ...
An umbilical-urachal sinus belongs to the spectrum of congenital urachal anomalies and represents a non-communicating dilatation of the urachus at the umbilical end.
Presentation is commoner in children and rare in adult.
An umbilical-urachal sinus...
Umbilical venous catheters are commonly used in the neonatal period for vascular access and should be carefully assessed for position on all neonatal films.
An umbilical venous catheter generally passes directly superiorly and remains relatively anterior in the abdomen. It passes thr...
Unicameral bone cysts (UBC), also known as simple bone cysts, are common benign non-neoplastic lucent bony lesions that are seen mainly in childhood and typically remain asymptomatic. They account for the S (simple bone cyst) in FEGNOMASHIC, the commonly used mnemonic for lytic bone lesions.
A unifocalisation procedure is a corrective surgical technique used in patients with complete pulmonary artery atresia with major aortopulmonary collateral arteries (MAPCAs). In this technique, the collateral vessels supplying blood from the aorta directly to the lungs are brought into continuit...
Urachal cysts are one of the manifestations of the spectrum of congenital urachal remnant abnormalities.
Urachal cysts usually remain asymptomatic until complicated by infection or bleeding.
Infected urachal cyst can occur at any age.
Urbach-Wiethe disease, also known as lipoid proteinosis or hyalinosis cutis et mucosae, is a rare autosomal recessive genodermatosis that primarily affects the skin, upper respiratory tract, and central nervous system (CNS).
Urbach-Wiethe disease is a very rare condition, with few...
Ureterocoeles represent congenital dilatation of the distal-most portion of the ureter. The dilated portion of the ureter may herniate into the bladder secondary to the abnormal structure of vesicoureteric junction (VUJ).
Most ureterocoeles are congenital, usually associated with ...
VACTERL is an acronym that describes a non-random constellation of congenital anomalies. It is not a true syndrome as such and is equivalent to the VATER anomaly.
The estimated incidence is 1 in 10,000-40,000 births 3.
The acronym VACTERL derives from:
V: vertebral an...
Vascular rings and slings refer to the congenital vascular encirclement of the oesophagus and/or trachea by anomalous/aberrant vessels.
Vascular rings are rare, occurring in <1% of patients 1. No gender or ethnic predispositions have been identified 3.
VATER (equivalent to VACTERL) is the non-random constellation of a number of congenital anomalies.
V : vertebral anomalies
A : anal atresia
TE : tracheo-oesophageal fistulas
R : radial ray hypoplasia, polydactyly and renal agenesis
The prevalence of at least 3/5 anomalies oc...
Vein of Galen aneurysmal malformations (VGAMs), probably better termed as median prosencephalic arteriovenous fistulas, are uncommon intracranial anomalies that tend to present dramatically during early childhood with features of a left-to-right shunt and high-output cardiac failure.
Ventricular septal defects (VSD) represent defects in the interventricular septum that allow a haemodynamic communication between the right and left ventricles. It typically results in a left-to-right shunt.
They represent one of the most common congenital cardiac anomalies and ma...
The ventriculus terminalis, also known as the 5th ventricle, is an ependymal-lined, anatomical remnant, positioned at the transition from the tip of the conus medullaris to the origin of the filum terminale.
It represents the canalization and retrogressive differentiation of the caudal end of ...
Vesico-urachal diverticulum is one of the congenital urachal remnant abnormalities.
It is the proximal equivalent of a urachal umbilical sinus, representing a result of the failure of the urachus to close at the urinary bladder, forming an out-pouching of variable length from the...
Vesicoureteric reflux (VUR) is the term for abnormal flow of urine from the bladder into the upper urinary tract and is typically a problem encountered in young children.
For grading of vesicoureteric reflux, please refer to vesicoureteric reflux grading.
The incidence of UTI is...
Vesicoureteric reflux (VUR) grading divides vesicoureteric reflux according to the height of reflux up the ureters and degree of dilatation of the ureters:
grade 1: reflux limited to the ureter
grade 2: reflux up to the renal pelvis
grade 3: mild dilatation of ureter and pelvicalyceal system
Vitamin A (the retinoids) are a group of fat soluble vitamins required for many physiological functions, mainly vision, reproduction and epithelial maintenance. In the retina, a specific retinoid 11-cis-retinal is formed by photo-isomerisation within the rods and cones.
Vitamin B1 (thiamine) is a water soluble vitamin that is an important coenzyme for two reactions in the citric acid cycle (Kreb’s cycle). It therefore is vital for cellular ATP production, particularly in the central nervous system.
Pathological manifestations only occur with...
Vitamin C (ascorbic acid) is a water soluble vitamin that is a coenzyme for the formation of the structure protein collagen, particularly creating cross-linking of collagen fibres which greatly increases its tensile strength. It also acts as an antioxidant.
Vitamin D is used to describe a group of five fat-soluble secosteroid vitamins required for the homeostasis of serum calcium and phosphorus. Vitamin D is a prohormone that exists in two forms in humans (D2 and D3).
Cholecalciferol (D3) acts by regulating calcium and phosphorus intestinal absorp...
Vitamin E (the tocopherols) are a group of fat-soluble vitamins that act as an antioxidant. Hypovitaminosis E is rarely seen outside premature infants. Hypervitaminosis E is extremely rare as vitamin E is the least toxic of all the vitamins.
Vitamin K (phylloquinone (K1) and menaquinone (K2)) are a group of fat-soluble vitamins essential for normal blood-clotting function. Menaquinone is synthesised by normal flora in the intestine although the amount produced in vivo in the human gut is likely negligible. Vitamin K serves as a coen...
Voiding cystourethrography (VCUG), also known as a micturating cystourethrography (MCU), is a fluoroscopic study of the lower urinary tract in which contrast is introduced into the bladder via a catheter. The purpose of the examination is to assess the bladder, urethra, postoperative anatomy an...
Waardenburg syndrome is a rare congenital pigmentary disorder secondary to an abnormal distribution of neural crest-derived melanocytes during embryogenesis resulting in patchy areas of depigmentation. It is considered in the investigation of congenital sensorineural deafness.
The WAGR syndrome stands for:
Wilms tumours (greatly increased risk)
Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to WT1 gene.
Walker-Warburg syndrome (WWS), sometimes known as HARDE syndrome, is an extremely rare lethal form of congenital muscular dystrophy. It is primarily characterised by:
fetal hydrocephalus: almost always present
neuronal migrational anomalies: agyria (cobblestone lissencephaly / lissencephaly ty...
A Waterston shunt is a form of palliative surgery performed in patients with tetralogy of Fallot prior to the ability to repair the defect. It consists of a shunt formed between the ascending aorta and the right pulmonary artery.
This does not relieve the right ventricular outflow obstruction, ...
Weaver syndrome (WS) is a rare congenital disorder.
increased birth weight: fetal macrosomia
accelerated osseous maturation: increased bone age
typical facial features
Reporting a weightbearing foot series can be a daunting process if you are inexperienced and often results in the films being left for somebody else to report. This article attempts to demystify the whole process by providing a structured approach to their reporting.
Williams-Campbell syndrome (WCS) is a rare form of congenital cystic bronchiectasis, in which distal bronchial cartilage is defective.
It is thought to result from a deficiency of cartilage formation in the 4th to 6th order segmental bronchi.
Wilms tumour, also known as nephroblastoma, is a malignant paediatric renal tumour.
Wilms tumours are the most common paediatic renal mass, accounting for over 85% of cases 1,8 and accounts for 6% of all childhood cancers 2. It typically occurs in early childhood (1-11 years) with...
Wilms' tumour staging is largely anatomical and relates to the invasion and spread of the tumour. Where there is invasion or metastasises, prognosis is poorer. Wilms tumour, is one of the more common childhood malignancies.
confined to kidney
complete resection possible
Wimberger ring sign refers to a circular calcification surrounding the osteoporotic epiphyseal center of ossification in scurvy, which may result from bleeding.
It must not be confused with Wimberger sign, pathognomonic of congenital syphilis.
The Wimberger sign, also called Wimberger corner sign, refers to localised bilateral metaphyseal destruction of the medial proximal tibias. It is a pathognomonic sign for congenital syphilis.
It must not be confused with Wimberger ring sign seen in scurvy, which is sometimes also referred to as...
The Wolffian duct (also known as the mesonephric duct) is one of the paired embryogenic tubules that drain the primitive kidney (mesonephros) to the cloaca. In both the male and the female the Wolffian duct develops into the trigone of the urinary bladder.
In the female, in...
Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal anomaly characterised by partial deletion of the p arm of chromosome 4 (4p16.3).
agenesis of the corpus callosum
cleft lip + / - palate...
Wolman disease is a rare autosomal recessive inborn error of metabolism resulting in the deposition of fats in multiple organs.
Patients with Wolman disease typically present during the first two months of life with failure to thrive, diarrhoea and vomiting. Abdominal di...
Wyburn-Mason syndrome (also known as Bonnet-Dechaume-Blanc syndrome) is a rare, nonhereditary neurocutaneous disorder that typically presents with unilateral vascular malformations that primarily involve the brain, orbits and facial structures. It is currently classified as a craniofacial arteri...
The Yasargil classification is one of the two common systems for classifying vein of Galen malformations that is currently in use at the time of writing (mid 2016).
type I: small pure cisternal fistula between the vein of Galen (voG) and either the pericallosal arteries (anteri...
Yunis Varón syndrome is a rare skeletal dysplasia. It is thought to be autosomal recessive.
severe neurologic impairment
diastasis of sutures
absent thumbs and distal phalanges of fingers
The zebra stripe sign occurs where children with osteogenesis imperfecta have been treated with cyclical bisphosphonate therapy, e.g. pamidronate. When the drug is delivered in cycles, dense bone is formed while treatment is being given. This results in dense stripes across the metaphyses of bon...
The Zuelzer-Wilson syndrome (total colonic aganglionosis) is a subset of Hirschsprung disease, in which the whole colon is aganglionic. It is uncommon and accounts for 2-13% of cases of Hirschsprung disease 3. Multiple procedures have been devised to treat the condition, including proctocolectom...