Russell Silver Syndrome

Figure 3.172. The lower extremities of the infant show the less severe changes in that the femora, tibiae, and fibulae are hypoplastic and the feet are abnormal.

Adult Caudal Regression Syndrome

Figure 3.173. This infant with Rubenstein-Taybi syndrome presented at term with a birth-weight of 2700 g and a length of 48 cm. Note the prominent forehead, hypertrichosis, downslanting palpebral fissures, epicanthic folds, long eyelashes, hypertelorism, broad nasal bridge, a beaked nose with a nasal septum extending below the alae nasi, and micrognathia. In addition to the findings above, patients with Rubenstein-Taybi syndrome commonly have microcephaly, low-set malformed ears and a high arched narrow palate.

Figure 3.174. This figure shows the typical broad thumbs and broad toes which are seen in all infants with Rubenstein-Taybi syndrome. There may be shortening of thumbs and big toes. Clinodactyly of the fifth finger and overlapping of toes are seen in about 50% of these infants.

Figure 3.173. This infant with Rubenstein-Taybi syndrome presented at term with a birth-weight of 2700 g and a length of 48 cm. Note the prominent forehead, hypertrichosis, downslanting palpebral fissures, epicanthic folds, long eyelashes, hypertelorism, broad nasal bridge, a beaked nose with a nasal septum extending below the alae nasi, and micrognathia. In addition to the findings above, patients with Rubenstein-Taybi syndrome commonly have microcephaly, low-set malformed ears and a high arched narrow palate.

High Arched Palate

Figure 3.175. Broad thumbs and broad toes in another infant with Rubenstein-Taybi syndrome. Note the typical overlapping of toes.

3.176

3.177

Russell Silver Syndrome Newborn

Figure 3.176. Another view of the same infant with the Rubenstein-Taybi syndrome showing die large big toe and overlapping of toes.

Figure 3.177. This term baby shows the typical findings of Russell-Silver syndrome in that he was unusually small for his gestational age (less than the 3rd percentile), small in stature, and had pseudohydrocephalus in that the head appeared to be disproportionately large for the small face. The proximal extremities are relatively short and die distal extremities are long (disproportionate dwarfism). Some of these infants may have skeletal asymmetry which may involve the entire body (hemihyper-trophy) or which may be limited to involve only the skull or a limb.

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