A dominant-hereditary variation of the Pena-Shokeir syndrome; a case report.
Four children with the Pena-Shokeir syndrome are described. Apart from the classical manifestations of the syndrome: camptodactyly, ankyloses, facial anomalies, pulmonary hypoplasia, all four children had an extremely rigid skin. Possibly this rigidness of unknown origin led in these cases to fetal akinesia, which seems to be the explanation of the clinical manifestations of the syndrome. All children were born to one man, three in his first marriage, one in his second. Therefore this case report almost certainly presents a dominant-hereditary variation of the syndrome.
Vlaanderen
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W
Department of Obstetrics and Gynecology, Ziekenhuis Centrum, Apeldoorn, The Netherlands.
Manschot
T A
TA
Vermeulen-Meiners
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C
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D001176:Arthrogryposis / Q000473:pathology*; D005260:Female; D005324:Fetal Movement; D005799:Genes, Dominant; D006801:Humans; D007021:Hypospadias / Q000473:pathology*; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D008297:Male; D006831:Polyhydramnios / Q000000981:diagnostic imaging / Q000209:etiology*; D011247:Pregnancy; D063173:Retrognathia / Q000473:pathology*; D012868:Skin Abnormalities; D013577:Syndrome; D014463:Ultrasonography