[Pena-Shokeir syndrome: report of a case with benign outcome].
Pena-Shokeir syndrome is a rare, often lethal disease, characterized by intrauterine growth retardation and by fetal akinesia or hypokinesia that leads to craniofacial anomalies, limb ankylosis, polyhydramnios and pulmonary hypoplasia. The case that we report had a favourable evolution, although there was at birth a severe respiratory distress. EMG studies revealed deficit of innervation. Contraceptive therapy, wrongly used by the mother in the first period of pregnancy, played, probably, a concomitant role in the pathogenesis of the syndrome.
Romeo
M G
MG
Cattedra di neonatologia, Università di Catania.
Betta
P
P
Rodonò
A
A
Tina
L G
LG
Distefano
G
G
D000014:Abnormalities, Drug-Induced / Q000209:etiology; D000015:Abnormalities, Multiple / Q000139:chemically induced; D003276:Contraceptives, Oral / Q000009:adverse effects; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005317:Fetal Growth Retardation; D005324:Fetal Movement; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008168:Lung / Q000002:abnormalities*; D008297:Male; D006831:Polyhydramnios / Q000209:etiology; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D013997:Time Factors
D003276:Contraceptives, Oral
La sindrome di Pena-Shokeir: descrizione di un caso clinico ad evoluzione benigna.