Bilateral poland anomaly versus thoracic dysplasia

✍ Scribed by Maroteaux, Pierre; Le Merrer, Martine

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 997 B
• Volume: 80
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19981228)80:5<538::aid-ajmg23>3.0.co;2-s

✦ Synopsis

The diagnostic of bilateral Poland anomaly proposed by Karnak et al. [1998] in a 6-year-old girl with chest deformity and hand involvement is not convincing.

This observation is in fact an example of a typical case of Jeune dysplasia. From a clinical point of view the morphology of the thorax is characteristic, and the girl is described with neonatal respiratory difficulties; these difficulties are never observed in the developmental defect of the pectoralis major.

Radiographs confirm the relative shortness of the ribs and the cylindric aspect of the rib cage. Moreover on the radiography of the hand, short metacarpals and cone-shaped epiphyses are striking arguments for Jeune dysplasia and are unusual in Poland anomaly.

However, the article provided by Karnak is interesting as it underlined the presence of thoracic muscular hypoplasia contributing to respiratory insufficiency in thoracic dysplasia. This hypoplasia is not exceptional and is insufficiently reported.

It is important to rectify the diagnosis in the interest of the American Journal of Medical Genetics readers: the diagnosis of bilateral Poland anomaly instead of thoracic dysplasia will lead to wrong genetic counseling and inadequate treatment.