title: Caudal dysplasia sequence: severe phenotype presenting in offspring of patients with gestational and pregestational diabetes.
abstract: The association of maternal diabetes mellitus and congenital anomalies is well established. Children of insulin-dependent diabetic women have an increased risk of congenital malformations, especially major multiorgan defects. The cardiovascular, central nervous, gastrointestinal, genitourinary and musculoskeletal are the most affected body systems. Studies also show that offspring of women with gestational diabetes (specially those with fasting hyperglycaemia) tend to have higher rates of congenital anomalies. We report two cases of infants born to unrelated mothers: one with diabetes mellitus first detected during pregnancy (gestational diabetes) and the other with pregestational diabetes. Both infants had amelia of the lower limbs (suggestive of caudal dysplasia sequence), together with cardiovascular, skeletal, urinary and gastrointestinal defects. While pregestational diabetes seems to leave no doubt about its teratogenicity, the association of gestational diabetes and fetal/newborn malformations is still under discussion. Complete absence of the lower limbs has not been reported in association with gestational diabetes, but it may represent a spectrum of the caudal dysplasia sequence. The presentation of two cases with the same clinical phenotype of mothers with gestational and pregestational diabetes supports the evidence that gestational diabetes can be responsible for the development of the most severe form of the caudal dysplasia sequence.
authors.affiliation: Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
authors.forename: Beatriz Ribeiro
authors.initials: BR
authors.lastname: Versiani
authors.forename: Enid
authors.initials: E
authors.lastname: Gilbert-Barness
authors.forename: Liane Rosso
authors.initials: LR
authors.lastname: Giuliani
authors.forename: Luiz Cesar
authors.initials: LC
authors.lastname: Peres
authors.forename: João Monteiro
authors.initials: JM
authors.lastname: Pina-Neto
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology; D003920:Diabetes Mellitus / Q000473:pathology*; D016640:Diabetes, Gestational / Q000473:pathology*; D004480:Ectromelia / Q000209:etiology; D005260:Female; D005333:Fetus / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010641:Phenotype; D011247:Pregnancy; D011254:Pregnancy in Diabetics; D011859:Radiography