Early lethal syndrome involving multiple joint
contractures, camptodactyly, facial anomalies, and pulmonary hypoplasia.
Fetal Akinesia/Hypokinesia Sequence; Fetal Akinesia
Deformation Syndrome (FADS).
First described by S.D.J. Pena and W.H.K. Shokeir in 1974.
Rare; more than 30 cases reported. First identified in
1974. F = M.
Autosomal recessive in more than half the
cases. Etiology heterogeneous. Risk of recurrence has been estimated between
10 and 15% unless there is maternal myasthenia gravis (several cases), in
which case recurrence is high. Thought to represent a lesser degree of
clinical expressivity of the same mutation.
The clinical phenotype is probably caused by
decreased in utero movement, whatever the cause (muscular, spinal, or
cerebral). This results in ankylosis of multiple joints, absence of
breathing in association with pulmonary hypoplasia, absence of swallowing
resulting in polyhydramnios, and absence of facial muscle movements leading
to craniofacial anomalies.
Clinical based on the multiple features of disease.
Approximately 30% are stillborn and those that reach term are small for
dates. Antenatal ultrasonography shows lack of fetal movement and
polyhydramnios. Confirmation is with muscle histology or at postmortem
Neurological: muscle atrophy, generalized hypotonia,
and hyporeflexia/areflexia. Musculoskeletal: arthrogryposis of multiple joints,
multiple ankyloses, camptodactyly, rocker-bottom feet, short neck. Craniofacial:
expressionless faces, hypertelorism, micrognathia, cleft palate. Pulmonary:
hypoplasia. Cardiac: cardiac hypoplasia, arrhythmias, congenital defects. Endocrine: adrenal hypoplasia, failure to thrive. Death usually occurs in the neonatal
period as a consequence of lung hypoplasia and there have been no survivors after 1 year
It is unlikely that anesthesia will
be required in these babies. Full assessment of the severity of the syndrome
is needed. It is likely that the babies will be ventilated initially.
Micrognathia may make direct
laryngoscopy difficult. May have significant pulmonary hypoplasia.
Adrenal hypoplasia may require
Jones KL: Smith's Recognisable Patterns of Human Malformations. 5th ed. WB
Saunders, Philadelphia 1997, p 174.
Katzenstein M, Goodman R: Preand postnatal findings in Pena-Shokeir 1
syndrome: Case report and review of the literature. J Craniofac Genet Dev Biol 8(2):11, 1988.
Takada E, Koyama N, Ogawa Y et al: Neuropathology of infant with
Pena-Shokeir 1 syndrome. Pediatr Neurol 10(3):241, 1994.