A fetus with upper limb amelia, "caudal regression" and Dandy-Walker defect with an insulin-dependent diabetic mother.
We describe the fetus delivered to an insulin-dependent diabetic woman who had had a previous large, stillborn, non-malformed male infant and a normal female infant. The present fetus had a most unusual combination of malformations which to date had not been described in diabetic embryopathy. The anomalies include: upper limb amelia, "caudal regression" with bilateral absence of the fibulae, unilateral absence of a femur and ipsilateral oligodactyly; undescended testes; atrial septal defect; multiple vertebral and rib anomalies with cervical scoliosis and right webbed neck; left cleft lip and cleft palate; severe micrognathia; left microtia with atresia of the ear canal; and central nervous system defects including hydrocephalus with the Dandy-Walker malformation, asymmetry of the lateral ventricles, abnormal frontal gyral formation, and ependymal and ganglion cell heterotopias of the spinal cord. The pathogenesis of diabetic embryopathy is discussed.
D001132:Arm / Q000002:abnormalities*; D002971:Cleft Lip / Q000150:complications; D002972:Cleft Palate / Q000150:complications; D003616:Dandy-Walker Syndrome / Q000150:complications*; D004480:Ectromelia / Q000150:complications*; D005260:Female; D006344:Heart Septal Defects, Atrial / Q000150:complications; D006801:Humans; D006849:Hydrocephalus / Q000150:complications*; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000209:etiology; D007866:Leg / Q000002:abnormalities*; D008297:Male; D011247:Pregnancy; D011254:Pregnancy in Diabetics; D013131:Spine / Q000002:abnormalities