Poland syndrome

In the mid-19th century, A. Poland was the first to describe the single-sided absence of pectoralis and serratus anterior muscles. Over 100 years later, his observation was recovered and more features were observed, resulting in the development of a definition of a complex anatomical defect. The nature and severity of Poland syndrome ranges from hypo- or aplasia of the nipple in combination with muscular defects, through to deformities of the thoracic cage, including ipsilateral hypo- and dysplasia of the ribs and sternum, potentially associated with anomalies of the upper limb. Disagreement still exists with regards to the etiology (e.g., intrauterine ischemia of subclavian artery supplied structures) and classification of this complex entity ref. Depending on the severity of the defects, surgical reconstruction is indicated for cosmetic and/or functional improvement. In terms of minor defects, soft tissue reconstruction is required, which involves transferring the  latissimus dorsi flaps, and the use of lipofilling and silicone implants alone or in combination. In females, complete reconstruction or correction of hypoplastic or absent mammae is mandatory and, if necessary, is accompanied by nipple reconstruction and tattooing.

The most complex, but rare, deformity results from bony hypoplasia and defects of the thoracic cage. Very few reports are available that address how missing ribs can partially or totally be replaced in order to close the defect and provide a supporting surface for the transferred muscles. Herein, the crucial point is that osteosynthetic devices were originally developed to compensate for bony instability while they are not intended for use with moving structures like ribs. For this reason, reconstructive surgery of defects of the thoracic cage continues to represent a challenge for innovative teams ref . In conclusion, patients that suffer fromwith  Poland syndrome exhibit a wide range of visible and functional defects that require individually customized treatment algorithms to meet each patient’s distinct needs with minimal complication and requirement for revision. 

Jeune Syndrome

The most common feature of Jeune syndrome, which was first described in 1956, is an asphyxiating thoracic dystrophy. In this rare autosomal recessive disorder, the intrathoracic organs are squeezed into a small restrictive chest cage that doesn´t grow adequately. Respiratory failure and recurrent brochopulmonary infections, together with increasing right ventricular load, can have potentially life-threatening consequences, and untreated patients often die within their first years of life. Very few reports on early surgical inventions that can successfully bridge patients from infancy to childhood are available. Of the surgery that is described, two principal procedures are employed: distraction of the sternum after longitudinal splitting with or without interposition of autologous rib grafts and other material; and the use of posterior osteotomies that are fixated with expandable implants, e.g., vertically expandable prosthetic titanium rib (VEPTR) to enlarge the thoracic cavity. However, surgical interventions that successfully treat Jeune syndrome are not yet well established and stagnates on the level of experimental procedures.

Sternal defects

Total or incomplete fusion of the sternum is the underlying pathomechanism of sternal clefts, ranging from isolated superior V-shaped clefts to ectopia cordis and Cantrell´s pentalogy, when the abdominal wall and diaphragmatic defects are associated. Surgical repair of minor defects is recommended during the neonatal period when the sternum edges are still movable and can be easily approximated. The survival rate of babies that suffer from the extremely rare true ectopia cordis is low, due to compromised blood flow in the great vessels on the attempt to replace the heart into the mediastinum. In patients with thoracoabdominal defects, coverage of the heart, liver and intestine is the priority, followed by repair of the diaphragm and cardio surgical procedures. Despite the severity of this malformation, the outcome is much better than that associated with isolated ectopia cordis.

Defects of the thoracic wall

Bony defects of the thoracic cage before adulthood mostly result from small to large tumor resections. The crucial problem is that defects and the fusion of ribs frequently result in the development of scoliosis. It is nearly impossible to tackle this problem in the growing organism, because no self-expending stabilizing devices are available. After puberty, persisting defects are often required to be closed for medical and cosmetic purposes. At this time, reconstruction of the bony structures should be considered in order to prevent the underlying organs from sustaining mechanical injury and to provide a stable substructure for muscular shaping and reconstruction of the breast in females. For this indication, new implants for stabilizing or replacing ribs are available. However, in the meantime, and awaiting the development of more effective techniques, the coverage of the defect with biological or synthetic material as well as muscle flaps and soft tissue iscurrently common practice and is forecast to remain as such for the foreseeable future.

Excerpt from

C. Petersen,  in “Thoracic Surgery in Children and Adolescents”, Claus Petersen, Benno M. Ure (Eds.), 2016 Walter de Gruyter GmbH, Berlin/Boston