Anton H. Schwabegger

Etiology of chest wall deformities—a genetic review for the treating physician

Chest wall deformities such as pectus excavatum, pectus carinatum, and cleft sternum can be isolated malformations or dysmorphic features of genetic associations, monogenic disorders, and various numeric and structural chromosomal aberrations. In contrast to the most important syndromes such as Marfan syndrome or Noonan syndrome that can be associated with a chest wall deformity and for which the causative genes are known, etiology of isolated chest wall deformities is still a matter of research. Therefore, an interdisciplinary approach, particularly in patients with additional symptoms is strongly recommended to choose the best therapeutic approach for each patient and its family.

The Internal Mammary Artery Perforator (IMAP) Breast-Flap Harvested From an Asymmetric Hyperplastic Breast for Correction of a Mild Funnel Chest Deformity

Pectus excavatum deformity is the most frequent congenital anomaly of the thoracic wall. If the invasive surgical procedures of thoracoplasty are not indicated or the patient refuses them, alternative treatment options should be considered. In such cases, local or distant transposition of autologous tissue could be appropriate. This report presents a selected case of funnel chest deformity and concomitant unilateral breast hyperplasia. Both deformities were corrected simultaneously using a pedicled internal mammary artery perforator (IMAP) flap dissected from the hyperplastic breast. This is a safe, reliable, low-morbidity, one-stage option for adult women that uses an easy-to-harvest flap for simultaneous correction of mild funnel chest deformity and concomitant breast hyperplasia with a single resulting scar.

Prenatal Diagnosis of Apert Syndrome with Cloverleaf Skull Deformity Using Ultrasound, Fetal Magnetic Resonance Imaging and Genetic Analysis

Apert syndrome is characterized by craniosynostosis, midfacial hypoplasia and symmetric cutaneous and bony syndactyly of the limbs. The skull is usually hyperacrobrachycephalic, whereas frank cloverleafing, as a clinically obvious trilobed skull deformity, is rarely seen in these patients. We report a rare case of Apert syndrome with cloverleaf skull deformity, prenatally diagnosed at 26weeks’ gestation in which the sonographic features of a characteristic trilobed skull, abnormal biparietal diameter and head circumference, as well as malformations of the upper and lower extremities led to the diagnosis, confirmed by prenatal fibroblast growth factor receptor type 2 mutation analysis and fetal magnetic resonance imaging. The genetic evaluation revealed a p.P253R mutation in fibroblast growth factor receptor type 2 consisting in a transversion C>G at nucleotide 758. We discuss the relevant prenatal morphologic and genetic findings of this patient and review previously published cases. Our report demonstrates the feasibility of the prenatal diagnosis of Apert syndrome with cloverleaf skull using ultrasound, fetal magnetic resonance imaging and mutation analysis, and also highlights the importance of the biparietal diameter as an early predictor of growth restriction in severe craniosynostosis cases.

Refinements in pectus carinatum correction: the pectoralis muscle split technique

BACKGROUND The standard approach for correction of pectus carinatum deformity includes elevation of the pectoralis major and rectus abdominis muscle from the sternum and adjacent ribs. A postoperative restriction of shoulder activity for several weeks is necessary to allow stable healing of the elevated muscles. To reduce postoperative immobilization, we present a modified approach to the parasternal ribs using a pectoralis muscle split technique. METHODS At each level of rib cartilage resection, the pectoralis muscle is split along the direction of its fibers instead of elevating the entire muscle as performed with the standard technique. From July 2000 to May 2007, we successfully used this technique in 33 patients with pectus carinatum deformity. RESULTS After the muscle split approach, patients returned to full unrestricted shoulder activity as early as 3 weeks postoperatively, compared to 6 weeks in patients treated with muscle flap elevation. Postoperative pain was reduced and the patients were discharged earlier from the hospital than following the conventional approach. CONCLUSIONS The muscle split technique is a modified surgical approach to the parasternal ribs in patients with pectus carinatum deformity. It helps to maintain pectoralis muscle vascularization and function and can reduce postoperative pain, hospitalization, and rehabilitation period.

A rounded dissector to reduce complications in the minimally invasive repair (Nuss) of pectus excavatum in adolescents and adults.

Occasionally during the minimally invasive repair of pectus excavatum(MIRPE), the conventional flat dissector is not rigid enough to elevate the anterior thoracic wall for bar implantation and its sharp edges may cause vessel or other tissue damage. Asa result of experiencing such complications in four cases, a new highly rigid dissector with a round cross-section was developed and its advantages are presented in a consecutive series of 21 cases.

Stabilization of microvascular pedicles in intricate locations using fibrin glue

In reconstructive microsurgery, it is occasionally advantageous to use long recipient or donor vessels for optimal flap inset. These long vessels are prone to kinking or torsion along their longitudinal axis from vessel distension during blood inflow and rising blood pressure. More often than arteries, the veins can also be compressed by overlying tissue sutured under tension or by developing edema. Reanastomosis can no longer be feasible or desirable for several reasons, and the elongated vessels may have to be shifted to a curved course. To avoid detrimental kinking or torsion, fibrin glue can be administered along this new vessel course in order to ensure stabilization. In 20 such cases, we successfully avoided complications when the danger of kinking, torsion, or vein compression was evident after successful anastomosis. On the basis of this experience, we recommend the use of fibrin glue in microsurgical procedures, especially for vessels in intricate geometrical locations.

A case of an extremely large accessory bone with unusual sutures and foramina parietalia permagna in multiple premature craniosynostoses

BACKGROUND Within the entity of craniofacial malformations premature craniosynostoses represent the majority of cases. They originate from disturbances in the ossification process, resulting in an osseous closure of cranial sutures ahead of time. Depending on severity and number of the affected sutures, a local or general growth inhibition of the skull follows. In the rare instance of accessory bones along these affected sutures, they may interfere with diagnostics and therapy. PATIENT This clinical report describes the case of a seven-month-old male infant with multiple craniosynostoses, an extraordinary large accessory median calvarial bone, two foramina parietalia permagna and a submucosal cleft palate. Chromosomal and genetic analysis did not reveal potential mutations. RESULTS The osseous abnormalities were diagnosed and displayed by three-dimensional computed tomography. The sequential surgical treatment consisted of occipital remodelling at seven months of age and frontoorbital advancement at fourteen months. CONCLUSION This rare anatomical variation of the cranial bones - superimposed by multiple premature craniosynostoses - demonstrates the necessity of accurately conducted preoperative diagnostics for appropriate surgical planning. Knowledge, and precise medical examination of potential anatomical variations facilitate the planning and secure performance of surgery as well as its outcome.

Deformities of the Thoracic Wall: Don't Forget the Plastic Surgeon

Abstract Surgical procedures for pectus excavatum (PE) repair, such as minimally invasive repair of pectus excavatum or similar interventions (modified open videoendoscopically assisted repair of pectus excavatum), for remodeling the anterior thoracic wall may finally not always achieve sufficiently pleasing aesthetic results. Particularly in the asymmetric and polymorphic cases, remnant deformities may still be present after any sophisticated remodeling attempt. On the other hand, some cases despite optimal surgical management develop mild recurrences with partial concavity or rib cartilage distortion shortly after pectus‐bar removal. Secondary treatment options then may include open access surgery, resection, or reshaping of deformed and prominent costal cartilage. Residual concave areas can be filled by autologous tissue, such as cartilage chips, liposhifting, or implantation of customized alloplastics. To provide the best options for a variety of primary or secondary postsurgical expressions of anterior wall deformities, any physician dealing with PE corrections should be familiar with various shaping and complementary reconstructive techniques or at least should have knowledge of such. However, among treating surgeons, there is an awareness that no single method can be applied for every kind of funnel chest deformity. Careful selection of appropriate techniques, either as a single approach for the ordinary deformities or in conjunction with ancillary procedures for the intricate cases, should be mandatory, based on the heterogeneity of symptoms, severity, expectations, and surgical and technical resources. A variety of such ancillary reconstructive procedures for PE repair are explained and illustrated herewith.