Antley-Bixler
Syndrome
Antley-Bixler
syndrome should be considered in a neonate with dysmorphic facial features
(Figure 154.1) and arthrogryposis.
A
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B
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Figure 154.1.— Antley-Bixler syndrome.
[A and B] Facial features: brachycephaly, prominent frontal bossing, dysplastic
ears, midfacial hypoplasia, depressed nasal bridge, and proptosis.
Arthrogryposis
involves the fingers, wrist, elbows , hips, and ankles. Arthrogryposis
of the elbows is most common (Figure 154.2).
A
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B
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Figure 154.2.— Antley-Bixler syndrome.
Arthrogryposis of the elbows.
Other
associated anomalies may include spinal and distal limbs abnormalites
(Figure 154.3).
Figure 153.3— Antley-Bixler syndrome.
[A] sacral tag; [B] broad thumb; [C] broad toes.
The
diagnosis is confirmed by conventional radiographs demonstrating bony
abnormalities, especially in the presence of radiohumeral synostosis (Figure
154.4 A) and femoral bowing. Patients with Antley-Bixler syndrome may
die during the neonatal period as a result of choanal atresia (Figure
154.3 B). Survivors have normal intelligence. Contractures improve with
age. This syndrome is probably an autosomal recessive disorder.
A
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B
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Figure 154.4.— Antley-Bixler syndrome.
[A] radiohumeral synostosis; [B] abnormal skull do to craniosinostosis
leading to large orbits and bony abnormality that predisposes to choanal
atresia.
Diastrophic
dysplasia
Diastrophic
means crooked. Neonates with diastrophic dysplasia are short and the limbs
are crooked (Figure 154.5). Diastrophic dysplasia may be associated with
respiratory obstruction due to laryngeal stenosis. Death may occur due
to obstructive apnea.
Figure 154.5.— Diastrophic
dysplasia. Arthrogryposis of both feet.
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