FETAL AKINESIA

Normal fetal growth and development during pregnancy is dependent on adequate fetal movement. Limitation of movement, regardless of the underlying cause, results in a typical pattern of abnormal fetal morphology. This phenotype has been called the fetal akinesia deformation sequence (FADS).

ETIOLOGY OF FETAL AKINESIA (1)

1. Neuropathy.
2. Myopathy.
3. Restrictive dermopathy.
4. Teratogens.
5. Intrauterine constraint.

PHENOTYPE FINDINGS IN FADS (1,2)

• IUGR.
• Congenital contractures.
• Limb underdevelopment.
• Pulmonary hypoplasia.
• Abnormal amniotic fluid volume.
• Short umbilical cord.

SYNDROMES ASSOCIATED WITH FADS

1. Pena-Shokeir syndrome.
2. Neu Laxova syndrome.
3. Neu Laxova variant.
4. Restrictive dermopathy.
5. Lethal multiple pterygium syndrome.
6. Cerebrooculofacioskeletal syndrome
7. Oligohydramnios sequence.
8. Trisomy 18.
9. Arthrogryposis multiplex congenita.
10. Gaucher disease type II.
11. Congenital myotonic dystrophy.
12. Teratogens.
13. Congenital infection.
14. Alpers progressive infantile neuronal poliodystrophy.
15. Fowler syndrome.

REFERENCES

1. Hammond E, Donnenfeld AE. Fetal akinesia. Obstet Gynecol Surv 1995;50(3):240-249.
2. Hall JG. Invited editorial comment: Analysis of the Pena-Shokeir phenotype. Am J Med Genet 1986;25:99.