Myotonic Dystrophy Newborn

Figure 3.116. Right hand of the same infant with amyotonia congenita. Note the lack of finger creases and the abnormal appearance of the hand due to lack of intrauterine fetal movement. Finger creases normally develop at 11 to 12 weeks gesta-tional age.


Fetal Movement Weeks

Figure 3.117. In this male infant with myotonic dystrophy, note the marked hypotonia, cryptorchidism, and clubfoot.

Figure 3.118. The face of the same infant as shown in Figure 3.117 shows the typical lack of expression and the bilateral ptosis seen in myotonic dystrophy. This should be differentiated from neonatal myasthenia gravis.

About 10 to 15% of infants of myasthenic mothers are affected and signs present in the baby at or shortly after birth. The clinical picture of neonatal myasthenia gravis is dominated by general hypo-tonia, there being symmetrical involvement of the face, trunk and limbs. In severe cases there is lack of facial expression and difficulty in sucking and swallowing. Prognosis is good, with improvement within a week; the infant may be symptomatic as long as 6 weeks.

Neonatal MyastheniaMyotonic Dystrophy Facial Expression

Figure 3.119. Cryptorchidism and clubfoot in the same infant with myotonic dystrophy.

Figure 3.120. Radiograph of thorax of a hypotonic infant with the fetal akinesia syndrome. Note the thin, gracile, downslanting ribs, long thin clavicles, and splayed chest. The poor inspiration is due to poor muscle effort because of the hypotonia.

Gracile Syndrome


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