VACTERL association is a non-random association of birth (congenital) defects that affects multiple median and para-median structures. VACTERL association is a useful acronym to denote vertebral abnormalities (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal or radial abnormalities (R), and limb abnormalities (L). Atleast 3 or more defects must be present to mak...

A 29-year-old man with vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal defects, and limb defects (VACTERL) presented with headache, photophobia, and worsening nystagmus. He had near-normal visual acuity and visual fields, absent stereopsis, and see-saw nystagmus. Brain MRI revealed a thin remnant of the optic chiasm but normal-sized optic nerves. Functional MR...

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...

The history of limb-lengthening surgery can be traced back to the nineteenth century. Since that time, the orthopaedic community has made tremendous progress in performing successful lengthening procedures. Among the important contributors to the field, Dr. Gavril Ilizarov remains one of the most significant innovators. Because of advancements over the past century, limb lengthening has become ...

Introduction: Traditionally in reconstruction of lower limb soft tissue defects, muscle flaps have been the ‘Gold Standard’ for Gustillo Anderson Grade III B fracture involving upper and middle third defects. Lower third defects were usually reconstructed with free flaps. Evolution in flap surgery has enabled fasciocutaneous, adipofascial and superthin flaps to be harvested for the purpose of r...

The morphogenesis of the vertebrate limbs is a complex process in which cell signaling and transcriptional regulation coordinate diverse structural adaptations in diverse species. In this study, we examine the consequences of altering Hand1 dimer choice regulation within developing vertebrate limbs. Although Hand1 deletion via the limb-specific Prrx1-Cre reveals a non-essential role for Hand1 i...

INTRODUCTION Ninety-four percent of all birth defects and 95% of deaths due to the birth defects occur in low and middle income countries, Tanzania among them. In Tanzania there are currently limited birth defects prevention strategies in place due to limited information on factors associated with the occurrence of birth defects. METHODS We conducted a case control study that included newborn...

Congenital limb malformations rank behind only congenital heart disease as the most common birth defects observed in infants. Finding genes that cause defects in human limb patterning should be straightforward but has been limited, in part, by the bewildering spectrum of phenotypes, which are difficult to separate into etiologically distinct disorders. One approach to the identification of rele...

Chorionic villus sampling (CVS) and amniocentesis are prenatal diagnostic procedures that are performed to detect fetal abnormalities. In 1991, concerns about the relative safety of these procedures arose after reports were published that described a possible association between CVS and birth defects in infants. Subsequent studies support the hypothesis that CVS can cause transverse limb defici...

BACKGROUND Despite the proliferation of laparoscopic Roux-en-Y gastric bypass (LRYGBP), postoperative bowel obstructions still occur from mesocolonic constrictions, internal hernias, and anastomotic strictures. Obstructed patients do not present with a characteristic history and physical. Therefore, radiographic studies including upper gastrointestinal films and computed tomography are essentia...