The Pena-Shokeir syndrome: report of nine Dutch cases.
We report on nine individuals with the Pena-Shokeir syndrome. Clinical findings are compared with data on patients from the literature. Emphasis is made on genetic background, neuropathological findings, and (in two cases) on prenatal data. Possible pathogenetic mechanisms are discussed.
D000015:Abnormalities, Multiple / Q000196:embryology / Q000235:genetics / Q000473:pathology*; D001176:Arthrogryposis / Q000473:pathology; D004194:Disease; D005145:Face / Q000002:abnormalities; D005260:Female; D005324:Fetal Movement; D005385:Fingers / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D007178:Inbreeding; D007231:Infant, Newborn; D008297:Male; D009422:Nervous System Diseases / Q000196:embryology; D009468:Neuromuscular Diseases / Q000196:embryology; D006831:Polyhydramnios / Q000150:complications; D011247:Pregnancy; D013577:Syndrome