We report Down syndrome (DS)-associated congenital gastrointestinal (GI) defects identified during a 15 year, population-based study of the etiology and phenotypic consequences of trisomy 21. Between 1989 and 2004, six sites collected DNA, clinical and epidemiological information on live-born infants with standard trisomy 21 and their parents. We used chi-squared test and logistic regression to...

The association between epidermolysis bullosa and congenital pyloric atresia is rare, but is a known distinct clinical entity with autosomal recessive inheritance. We report on a case of a baby girl born by cesarean section at 37 weeks’ gestation to a G7 P7 mother and weighed 2.84 kg. At birth, there was denuded skin over the right leg from the knee joint up to the middle of the right foot. Abd...

Epidermolysis bullosa (EB) is a rare and genetically inherited skin fragility disorder causing mucocutaneous blistering, erosion, ulceration as result of even minor trauma. Junctional EB (JEB), which type EB, via an autosomal recessive pattern characterized by blisters that appear in the lamina lucida basement membrane zone, junction between epidermis dermis. The integrin genes (ITGA6, ITGB4) a...

Carmi syndrome is a rare autosomal recessive disorder comprising congenital pyloric atresia (PA) and epidermolysis bullosa (EB). This association (EB–PA) was described by Swinborne and Kolher in 1968, whereas the genetic analysis was contributed by Carmi and hence the name.1 The basic feature is a defect affecting the integrity of the basement membrane and hemidesmosomes and the control over th...

Epidermolysis bullosa (EB) is a group of inherited blistering skin diseases that vary widely in their pathogenesis and severity. It has been divided into distinct subtypes depending on the level of tissue separation in the dermal- epidermal basement membrane zone. There are four main categories of EB: simplex, junctional, dystrophic and Kindler syndrome. Junctional epidermolysis bullosa with py...