title: [Familial akinesia-hypokinesia sequence (Pena-Shokier phenotype)].
abstract: The Pena Shokeir phenotype (PSP) is characterised by multiple ankyloses, camptodactyly, facial dysmorphisms and lung hypoplasia with hydramnios. The basic neuromuscular defect leads, through a fetal hypokinesia-akinesia, to the development of this nonspecific phenotype and a respiratory insufficiency with early postnatal mortality. Severe central nervous anomalies are described in one-third of the reported cases. In this paper a foetus with PSP and 4 further foetuses with severe cerebral malformations and only discrete lung hypoplasia are described. It is not clear whether the cerebral malformations represent a primary or secondary developmental defect.
authors.affiliation: Gyn. Geburtshilfl. Abt. Akad. Lehrkrk. München-Neuperlach.
authors.forename: E
authors.initials: E
authors.lastname: Oberlechner
authors.forename: H
authors.initials: H
authors.lastname: Seidel
authors.forename: T
authors.initials: T
authors.lastname: Schramm
authors.forename: H
authors.initials: H
authors.lastname: Rehder
authors.forename: F
authors.initials: F
authors.lastname: Gullotta
authors.forename: F
authors.initials: F
authors.lastname: Stechele
authors.forename: B
authors.initials: B
authors.lastname: Högel
authors.forename: E
authors.initials: E
authors.lastname: Rothemund
authors.forename: G
authors.initials: G
authors.lastname: Fichtel
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D001176:Arthrogryposis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D003241:Consanguinity; D005260:Female; D005313:Fetal Death / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities / Q000473:pathology; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D016216:Ultrasonography, Prenatal
vernacular_title: Familiäre Akinesie-Hypokinesie-Sequenz (Pena-Shokier-Phänotyp).