Extreme hypotrophy of the lower body pole, extensive hypoplasia of the spinal column and multiple anomalies of abdominal organs: a maximal variant of the caudal regression sequence?
A newborn with extreme hypotrophy of the lower body pole and aplasia of the lower spinal column is reported. Additional anomalies of internal organs included absence of one kidney and ureter, a diaphragmatic hernia, and anal atresia. Part of the organs located in the lower body pole were necrotic. There were no excretory apertures, and external genitalia were absent. Chromosomal analysis revealed a 46,XY karyotype. The multiple anomalies seen in this newborn may be interpreted as a maximal variant of the caudal regression sequence.
Rossi
R
R
University Children's Hospital, Department of General Paediatrics, Münster, Germany.
Holzgreve
W
W
Rehder
H
H
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000209:etiology / Q000473:pathology*; D001006:Anus, Imperforate / Q000150:complications; D005837:Genitalia, Male / Q000002:abnormalities; D006548:Hernia, Diaphragmatic / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011859:Radiography; D013116:Spinal Cord / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities*; D014551:Urinary Tract / Q000002:abnormalities