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Autosomal dominant disorder characterized by a small,
bell-shaped thorax and laryngeal stenosis with iliac and pelvis dysplasia.
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Thoraco-Laryngo-Pelvic Dysplasia.
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Two families with two children each and one sporadic
case have been described. The diagnosis was retrospectively suggested in a
third family described with thoracopelvic dysostosis.
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Classic mendelian autosomal dominant
inheritance with variable penetrance has been suggested.
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Small lungs and a restrictive chest wall as a
result of the thoracic dysplasia give rise to respiratory distress in the
newborn. In addition, laryngeal stenosis might cause upper airway
obstruction with increased work of breathing.
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Radiologic and clinical features, family history.
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The typical triad consists of laryngeal stenosis,
thoracic dysplasia with a small, bell-shaped chest wall, and a small pelvis.
Affected individuals usually present with respiratory distress at birth, and
tracheal intubation was difficult in all. Tracheostomy was usually indicated
for long-term ventilation. Tracheostomy was performed as an emergency
procedure in one patient at 5 weeks of age because the child could not be
reintubated after a failed extubation trial. This child later underwent
successful laryngotracheoplasty. Because of the small thorax and pelvis, the
abdomen appears big and protuberant in babies. Long-term outcome is not yet
defined. Mortality is high; in fact, the oldest described individual who
underwent thoracoplasty to increase the thoracic diameter in early childhood
eventually died of cor pulmonale at 14 years of age. The children in the two
families were delivered by cesarean section because of cephalopelvic
disproportion (mother with small pelvis, who obviously suffered from a
milder form of Barnes syndrome; however, tracheal intubation reportedly was
difficult secondary to laryngeal stenosis).
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Ideally, tracheal intubation is done
in the delivery room or the operating room with an ear-nose-throat or pediatric surgeon
present in case urgent tracheostomy is needed. Considering the available
literature, assessing older children for the presence of pulmonary
hypertension prior to intervention seems prudent.
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High positive pressures might be
necessary for adequate ventilation because of the restrictive chest
physiology, especially in the younger child. Pulmonary hypertension, if
present, may not be well tolerated, and the increased right ventricular
afterload because of positive pressure ventilation leads to a higher risk of
right ventricular failure. Avoid acidosis and hypercapnia to keep pulmonary
vascular resistance as low as possible, which is of particular risk during
induction with difficult face-mask ventilation and/or failed attempts of
tracheal intubation.
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In the presence of cor pulmonale,
pulmonary vasoconstrictors should be avoided. If extubation is considered in
patients with borderline respiratory function, a nerve stimulator should be
used to prevent any residual paralysis.
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Ellis-van Creveld Syndrome: Genetic form of short-limbed dwarfism.
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Jeune Syndrome: Jeune and Barnes syndromes share the predominant
feature of thoracic hypoplasia but are genetically distinct. In Jeune
syndrome, chest wall hypoplasia tends to be more severe. In contrast,
laryngeal stenosis is not a feature ...