[Familial akinesia-hypokinesia sequence (Pena-Shokier phenotype)].
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.
Oberlechner
E
E
Gyn. Geburtshilfl. Abt. Akad. Lehrkrk. München-Neuperlach.
Seidel
H
H
Schramm
T
T
Rehder
H
H
Gullotta
F
F
Stechele
F
F
Högel
B
B
Rothemund
E
E
Fichtel
G
G
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
Familiäre Akinesie-Hypokinesie-Sequenz (Pena-Shokier-Phänotyp).