Treacher Collins Treatment

Treacher Collins Syndrome
Figure 3.109. Frontal view of the face of the same infant as in Figure 3.108. The facial appearance resembles that of infants with Treacher-Collins syndrome. Note the partial absence of eyebrows which is another feature in these infants.

3.111

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Figure 3.111. Hypoplastic radius and ulna and absent thumb in the right upper extremity of die same infant. Hypoplasia or aplasia of die radius and absence of the thumb may or may not be present in infants with Nager's syndrome. This infant also had these typical findings in both upper extremities. This results in short forearms and there may be proximal radioulnar synostosis and limitation of elbow extension. Postaxial hexadactyly of die hands and feet and synostosis of die metacarpals and metatarsals may occur.

Right From Left Fibula

ity showing the hypoplastic radius and ulna and absent right thumb. Figure 3.113. Radiograph of the lower extremities of the same infant showing hypoplasia of the right fibula and absence of the left fibula.

ity showing the hypoplastic radius and ulna and absent right thumb. Figure 3.113. Radiograph of the lower extremities of the same infant showing hypoplasia of the right fibula and absence of the left fibula.

Figure 3.114. This infant with orofaciodigital syndrome type I (an X-linked dominant disorder limited to females because it is lethal in males) has an enlarged head from hydrocephalus.

Orofaciodigital Syndrome

Figure 3.115. This frontal view of the same infant as in Figure 3.114 shows the typical facial appearance. Note the wide interorbital distance (euryopia), lateral displacement of the inner canthi, the flat midfacial region, and one nostril which is smaller than the other. The nasal root is broad, there is a short upper lip with a thin vermilion border, and typically milia are present in these infants.

Milia Lips

Figure 3.116. In these figures the same infant shows the clefting of the palate and the small hematomatous masses on the dorsal and ventral surfaces of the tongue. Neonatal teeth and ankyloglossia are present. There is also webbing between the buccal mucous membranes and the alveolar ridge.

Figure 3.115. This frontal view of the same infant as in Figure 3.114 shows the typical facial appearance. Note the wide interorbital distance (euryopia), lateral displacement of the inner canthi, the flat midfacial region, and one nostril which is smaller than the other. The nasal root is broad, there is a short upper lip with a thin vermilion border, and typically milia are present in these infants.

Figure 3.116. In these figures the same infant shows the clefting of the palate and the small hematomatous masses on the dorsal and ventral surfaces of the tongue. Neonatal teeth and ankyloglossia are present. There is also webbing between the buccal mucous membranes and the alveolar ridge.

3.117

Syndactyly Infants

Figure 3.117. The same infant has brachydactyly, clinodactyly, and syndactyly of the fingers of the left hand.

Clinodactyly Toes

3.118

Figure 3.118. The right hand of die same infant with orofaciodigital syndrome again shows the hrachydactyly and syndactyly on the right. Note die clinodactyly and prominence on die little finger due to postaxial polydactyly.

Severe Brachydactyly
Figure 3.119. The same infant also shows marked hrachydactyly of the toes. The hallux is inclined laterally and there is syndactyly of the second and third toes.

Figure 3.120. In the Pena-Shokeir phenotype type I (fetal akinesia/hypokinesia sequence), there is severe intrauterine growth retardation and diffuse atrophy of skeletal muscle resulting in arthrogryposis with the head circumference spared. There are low-set ears, a depressed tip of the nose, small mouth, and micrognathia. It is suggested that this phenotype is secondary to decreased in utero movement and as a result there is polyhydramnios (due to failure of normal swallowing) and a short umbilical cord. There may be severe neuromyopathic disease. Neuromuscular defisciency of the diaphragm and intercostal muscles results in pulmonary hypoplasia.

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