FETAL AKINESIA-HYPOKINESIA DEFORMATION SEQUENCE (FADS) IN 2 SIBLINGS WITH CONGENITAL MYOTONIC-DYSTROPHY

Two premature siblings described herein had clinical features comparab le to the fetal akinesia-hypokinesia deformation sequence (Pena-Shokei r syndrome) with polyhydramnios, intrauterine growth retardation, pulm onary hypoplasia, short umbilical cord and lethality. Autopsy revealed no thoracal or abdominal viscera anomalies and examination of the bra in, spinal cord and peripheral nerves did not disclose any pathologica l changes. Light microscopy, immunohistochemistry and electron microsc opy of skeletal muscles demonstrated immature muscles with some fibril disorganisation and abnormal immunoreactivity for actin and desmin. S ubsequent molecular genetic analysis revealed a maternal diagnosis of myotonic dystrophy. The retarded growth and maturation of skeletal mus cle observed in the presented cases correspond with previous findings in neonatal myotonic dystrophy. A well-defined myopathy can thus resul t in the fetal akinesia-hypokinesia deformation sequence.