Pena-Shokeir syndrome, type I

*Gene map locus 11p11.2-p11.1, 4p16.2

Arthrogryposis multiplex congenita with pulmonary hypoplasia

FADS

Fetal akinesia deformation sequence

Fetal akinesia sequence

[Clinical features: intrauterine growth retardation; arthrogryposis; facial anomalies; pulmonary hypoplasia]

[Inheritance: autosomal recessive in some cases]


Fetal akinesia deformation sequence	An infant with Pena-Shokeir syndrome	Pena-Shokeir I syndrome
Diploma in Fetal Medicine Series	eMedicine	Neuroneonatology

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Edited by Aldo Campana, August 21, 2012