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To compare the birthweight of children affected by recessive dystrophic epidermolysis bullosa (RDEB) to a sibling control group, we designed a questionnaire-based case-control study. As participants we used patients with RDEB attending the Great Ormond Street Hospital for Children, London, England, and their nearest unaffected siblings. We found that children with RDEB are of significantly lower birthweight than their unaffected siblings, with 30% being small for their gestational age compared to 12% of controls (McNamar chi2 = 4.9, d f = 1, p = 0.02). A conditional logistic regression model was used to examine the possible effects of confounding variables. The relationship between the RDEB and standardized birthweight groups, smoking status of the mother at the time of birth, and the previous number of live births showed that the standardized birthweight group was the only significant variable in the model and was unaffected by confounding variables. Based on these findings, we concluded that the compromise in growth seen in RDEB begins in utero.

Original publication




Journal article


Pediatr Dermatol

Publication Date





303 - 306


Case-Control Studies, Epidermolysis Bullosa Dystrophica, Female, Fetal Growth Retardation, Genes, Recessive, Health Surveys, Humans, Infant, Newborn, Infant, Small for Gestational Age, Male, Maternal Age, Risk Factors, Siblings, Smoking, Surveys and Questionnaires