OBJECTIVE The purpose of this article was to review the published literature on 3-dimensional ultrasound (3DUS) and 4-dimensional ultrasound (4DUS) in obstetrics and determine whether 3DUS adds diagnostic information to what is currently provided by 2-dimensional ultrasound (2DUS) and, if so, in what areas. METHODS A PubMed search was conducted for articles reporting on the use of 3DUS or 4DU...

Anorectal malformation (ARM) is one of the most common congenital anomaly that requires emergency surgery in the neonatal period. ARMs are frequently associated with other life threatening congenital anomalies. Commonly associated anomalies are genito-urinary, cardiovascular, gastro-intestinal, skeletal and spinal. Alimentary tract anomalies are frequently masked by the intestinal obstruction p...

holt-oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. they range from clinodactyly, absent or digitalised thumb, hypoplastic...

Malformations of the lower limbs are rare and heterogeneous anomalies. Some congenital anomalies involving face, gastrointestinal system, skeletal system, urogenital system, heart, lung and diaphragma associated with lower limb malformations have been described in the literature. Here, we report a case of left proximal femoral focal deficiency (PFFD) together with fibular aplasia associated wit...

Disease characteristics. Kabuki syndrome (KS) is characterized by typical facial features (elongated palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupped ears), minor skeletal anomalies, persistence of fetal fingertip pads, mild to moderate intellectual disability, and postnata...

BACKGROUND Internal carotid artery agenesis is a rare anomaly that can be clinically asymptomatic. Klippel-Feil syndrome is a skeletal malformation characterized by vertebral fusion. Presence of postaxial polydactyly is suggestive of an underlying syndrome. CASE REPORT We report a rare case of a 44-year-old patient with non-specific symptoms and an association between these three rare abnorma...

A review of seventy-one children with sacral anomalies is presented. The aetiology is discussed and a classification of sacral anomalies is suggested, with three groups of patients: agenetic, dysgenetic and dysraphic. The clinical presentation of each group is discussed and the high incidence of congenital visceral and skeletal abnormalities is indicated in the dysgenetic group. The need for co...