Barnes syndrome is a rare entity observed among thoracic dysplasia/hypoplasia with or without polydactyly. It was described by Barnes in 1969, who included it within the Jeune syndrome.

Barnes syndrome is a rare entity observed among thoracic dysplasia/hypoplasia with or without polydactyly. It is a very low frequency disease of autosomal dominant transmission with variable penetrance. It is characterized by a laryngeal stenosis, costal narrowing and reduced pelvic dimensions. In 1983, Bankier and Danks reported a thoracic pelvic dysostosis in a mother and her son, suggesting that this was a distinct autosomal dominant disorder.

The syndrome is easily distinguished from the recessive Jeune syndrome by the different thoracic configuration, the presence of laryngeal stenosis, the absence of iliac spurs in infancy, and later the absence of renal involvement or coned epiphyses. Other distinctions are the bony changes in the spine, normal stature, and absence of polydactyly.

The prevalence of Jeune’s syndrome is increased. Radiological evaluation is essential for diagnosis. Characteristic findings include a narrow, bell-shaped thorax with short ribs and irregular bulbous costochondral junctions. Typical radiographic findings include a narrow bell-shaped thorax with short horizontally oriented ribs with irregular costochondral junctions, elevated clavicles, short iliac bones with a typical trident appearance of the acetabula, relatively short and wide long bones of the extremities and hypo-plastic phalanges of both hands and feet with cone-shaped epiphyses.

Jeune syndrome is a rare congenital abnormality and differential diagnosis is difficult due to its characteristic features. In most of the cases the mortality is as a result of respiratory failure. Therefore, early diagnosis to decrease mortality depends on doctor’s recognising the concerned symptoms. This disorder is commonly associated with mesomelic or rhizomelic dwarfism with a variable degree of shortness of hands. These findings were also observed in our case. Other skeletal findings include trident-shaped pelvis and premature skeletal ossification especially of the femoral epiphysis. Jeune syndrome is an extremely rare congenital disorder with a spectrum of abnormalities of which thoracic hypoplasia is the most striking. It can be diagnosed on early antenatal US by its characteristic skeletal and morphological features which can guide further management of pregnancy in form of termination or preparation for surgical correction of the deformity.

Barnes Syndrome: A Case of De Novo with Progression to Severe Respiratory Failure is published in the Medical Case Reports journal. You can study the case of Barnes syndrome published by Raul Montero Yeboles presented the case of a 5-month-old patient who is admitted to our Intensive Care Unit for progressive respiratory failure. She was diagnosed in utero with probable asphyxiating thoracic using Magnetic Resonance Imaging. When the patient was two months old, a whole-body bone scan was made and ruled out the disease, diagnosing the patient with spondyloepiphyseal dysplasia congenita. On admission to our unit, she presented progressive worsening, despite non-invasive mechanical ventilation, requiring intubation. This intubation was not possible due to significant subglottic stenosis.

Link: http://medical-case-reports.imedpub.com/barnes-syndrome-a-case-of-de-novo-with-progression-to-severe-respiratory-failure.php?aid=23110

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