Microcephaly Infant

Figure 3.125. Another infant with the fetal akinesia sequence showing the marked lack of dermal ridges and creases. This infant had the typical dysmorphic features of die face, webbing of the neck, and severe intrauterine growth retardation with generalized arthrogryposis.

Fetal Facial StructureGracile Ribs Images
Figure 3.127. Cryptorchidism is common in infants with the fetal akinesia sequence.

Figure 3.128. In a body radiograph of die same infant with the fetal akinesia sequence, note die thin gracile ribs, long thin clavicles, and thinning of all the long bones. The soft tissue in the extremities shows a lack of muscle mass. The appearance of the gracile ribs and long clavicles are also seen in trisomy 18 and myotonic dystrophy.


Cofs Syndrome

Figure 3.129. This infant with cerebrooculofa-cioskeletal (COFS) syndrome (Pena-Shokeir syndrome type II) presented with generalized hypotonia, hirsutism, characteristic facial features, widely spaced nipples, joint contractures, camptodactyly, and rockerbottom feet.

Newborn With MicrocephalyMicrognathia
Figure 3.131. A lateral view of the head and face of the same infant shows the hirsutism, microcephaly, ble-pharophimosis, deep-set eyes, upper lip overlapping the lower lip, and micrognathia.

Figure 3.130. A close-up view of the face of the same infant showing the characteristic facial features. Note the hirsutism, deep-set eyes, prominent root of the nose, upper lip overlapping the lower lip, and micrognathia.

Figure 3.132. In the close-up of the hand of this infant with COFS syndrome in the upper figure note the camptodactyly, and in the lower figure with the hand open, note the absence of finger creases due to lack of fetal movement early in gestation.

Pena Shokeir Syndrome


Rocker Bottom Feet
Figure 3.133. The same infant as in Figure 3.132 demonstrates rocker-bottom feet. Note the marked contracture accompanying this as seen in the right foot in the lower figure. These infants also have a longitudinal groove in the soles along the second metatarsal.
Ipsilateral Breast
Figure 3.134. Infant with Poland's anomaly showing unilateral absence of the sternal and costal portions of the pectoralis major muscle and brachysyndactyly of the hand on the ipsilateral side. There may be absence or hypoplasia and upward displacement of the nipple and breast on the affected side.

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    What is trisomy 18 syndrome?
    8 years ago

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