Zellweger Syndrome

Ambiguous Genitalia
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Figure 3.201. This infant with the VACTERL syndrome presented with vertebral anomalies of die lower dio-racic vertebrae, an esophageal atresia, dextrocardia, imperforate anus, and ambiguous genitalia. There were no anomalies of the limbs. Note the imperforate anus and ambiguous genitalia. Karyotype was normal XX. A catheter placed in the single perineal opening appeared in the colostomy. This confirmed the presence of a cloacal sac.

Ambiguous Genitalia

Figure 3.202. Radiograph of this infant shows the air-filled blind esophageal sac. Note that there is no communicating fistula, as the abdomen is completely opaque due to lack of air in the GI tract. There is abnormal segmentation of the distal thoracic vertebrae and anomalies of the ribs.

3.202

Figure 3.202. Radiograph of this infant shows the air-filled blind esophageal sac. Note that there is no communicating fistula, as the abdomen is completely opaque due to lack of air in the GI tract. There is abnormal segmentation of the distal thoracic vertebrae and anomalies of the ribs.

Zellweger Syndrome

Figure 3.203. Infants with Zellweger syndrome (cere-brohepatorenal syndrome) present with hypotonia and typical craniofacial features, in addition to other finings. In the close-up of the head of this infant note the high prominent forehead and somewhat flattened facies, hypertelorism, epicanthic folds, anteverted nares, and micrognathia.

Figure 3.203. Infants with Zellweger syndrome (cere-brohepatorenal syndrome) present with hypotonia and typical craniofacial features, in addition to other finings. In the close-up of the head of this infant note the high prominent forehead and somewhat flattened facies, hypertelorism, epicanthic folds, anteverted nares, and micrognathia.

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