Campomelia, cervical lymphocele, polycystic dysplasia, short gut, polysplenia.
An aborted fetus, the offspring of consanguineous parents, had the unusual combination of campomelia, cervical lymphocele, polycystic kidneys, pancreas, and liver, short gut, and polysplenia. Births of earlier similarly affected fetuses suggest an autosomal recessive inheritance. Skeletal, lymphatic, and renal lesions were seen at 26 weeks' gestation by ultrasonography, but not at 16 weeks.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D003241:Consanguinity; D005808:Genes, Recessive; D006801:Humans; D007422:Intestines / Q000002:abnormalities; D007668:Kidney / Q000002:abnormalities; D017880:Limb Deformities, Congenital; D007690:Polycystic Kidney Diseases / Q000151:congenital; D011296:Prenatal Diagnosis; D013154:Spleen / Q000002:abnormalities; D014463:Ultrasonography