Two male patients with bifid rib-basal cell nevus-jaw cyst syndrome (BCNS) were admitted to Department of Stomatology, the First Affiliated Hospital of Bengbu Medical College due to radiological findings of multiple low density shadows in the jaw. Clinical and imaging findings showed thoracic malformation, calcification of the tentorium cerebellum and falx cerebrum as well as widening of the orbital distance. Whole exon high-throughput sequencing was performed in two patients and their family members. The heterozygous mutations of c.C2541C>A(p.Y847X) and c.C1501C>T(p.Q501X) in PTCH1 gene were detected in both patients. Diagnosis of BCNS was confirmed. The heterozygous mutations of PTCH1 gene locus were also found in the mothers of the two probands. Proband 1 showed clinical manifestations of low intelligence, and heterozygous mutations of c.C2141T(p.P714L) and c.G3343A(p.V1115I) were detected in FANCD2 gene. Proband 2 had normal intelligence and no FANCD2 mutation. The fenestration decompression and curettage of jaw cyst were performed in both patients. Regular follow-up showed good bone growth at the original lesion, and no recurrence has been observed so far.
Humans ; Male ; Basal Cell Nevus Syndrome/diagnosis* ; Mutation ; Nevus ; Patched-1 Receptor/genetics* ; Pedigree ; Ribs/abnormalities*

Congenital absent sternum is a rare birth defect that requires early intervention for optimal long-term outcomes. Descriptions of the repair of absent sternum are limited to case reports, and no preferred method for management has been described. Herein, we describe the use of porcine acellular dermal matrix to reconstruct the sternum of an infant with sternal infection following attempted repair using synthetic mesh. The patient was a full-term male with trisomy 21, agenesis of corpus callosum, ventricular septal defect, patent ductus arteriosus, right-sided aortic arch, and congenital absence of sternum with no sternal bars. Following removal of the infected synthetic mesh, negative pressure wound therapy with instillation was used to manage the open wound and provide direct antibiotic therapy. When blood C-reactive protein levels declined to ≤2 mg/L, the sternum was reconstructed using porcine acellular dermal matrix. At 21 months postoperative, the patient demonstrated no respiratory issues. Physical examination and computed tomography imaging identified good approximation of the clavicular heads and sternal cleft and forward curvature of the ribs. This case illustrates the benefits of negative pressure wound therapy and acellular dermal matrix for the reconstruction of absent sternum in the context of infected sternal surgical site previously repaired with synthetic mesh.
Acellular Dermis ; Agenesis of Corpus Callosum ; Aorta, Thoracic ; C-Reactive Protein ; Congenital Abnormalities ; Down Syndrome ; Ductus Arteriosus, Patent ; Early Intervention (Education) ; Head ; Heart Septal Defects, Ventricular ; Humans ; Infant ; Male ; Methods ; Negative-Pressure Wound Therapy ; Physical Examination ; Ribs ; Sternum ; Surgical Mesh ; Thoracic Surgery ; Wounds and Injuries

Sternal malunion, or loss, developed after a median sternotomy cannot only be difficult to manage and treat, but also may diminish one’s quality-of-life drastically. The technique presented here represents a multispecialty approach in one stage for the reconstruction of an unstable thoracic cage. The procedure utilized a donated sternum and ribs. The sternum with ribs harvested from a single donor included adipose derived stromal vascular fraction (ADSVF) cells with marrow also from the same donor. Autologous muscle flaps, stabilized with acellular dermal matrix were utilized to provide a robust blood supply to the ADSVF cells and bone grafts. Acellular dermal matrix was used to construct the ribs and stabilize the plugs of stem cells and bone. These procedures, in the hands of multispecialty physicians, have led to several successful reconstructions involving complex chest wall deformities. This surgical intervention was performed in a one stage operation. This represents the first successful complete sternal transplant in a patient with return to normal activities and increased quality-of-life.
Acellular Dermis ; Bone Marrow ; Congenital Abnormalities ; Fractures, Malunited ; Hand ; Humans ; Reconstructive Surgical Procedures ; Ribs* ; Stem Cells ; Sternotomy ; Sternum ; Thoracic Surgical Procedures ; Thoracic Wall ; Tissue Donors ; Transplants

Binder syndrome is a rare maxillofacial abnormality. Yet, once presented, it often needs to be addressed surgically. To suit this purpose, various surgical techniques have been developed. This paper is a case report of a staged nasal reconstruction in a Binder syndrome patient using rib bone and cartilage graft and forehead flap. At the same time, preoperative and postoperative anthropomorphometric measurements were compared to assess the efficiency of the proposed surgical technique.
Cartilage* ; Forehead* ; Humans ; Maxillofacial Abnormalities ; Nose ; Ribs* ; Transplants*

The purpose of this review is the current understanding of proximal junctional kyphosis (PJK) and proximal junctional failure (PJF) following adult spinal deformity (ASD) surgery. We carried out a systematic search of PubMed for literatures published up to September 2017 with “proximal junctional kyphosis,”“proximal junctional failure,” and “adult spinal deformity” as search terms. A total of 98 literatures were searched. The 37 articles were included in this review. PJK is multifactorial in origin and likely results from variable risk factors. PJF is a progressive form of the PJK spectrum including bony fracture, subluxation between UIV and UIV+1, failure of fixation, neurological deficit, which may require revision surgery for proximal extension of fusion. Soft tissue protections, adequate selection of the UIV, prophylactic rib fixation, hybrid instrumentation such as hooks, vertebral cement augmentation at UIV and UIV+1, adequate selection material of rods and age-appropriate spinopelvic alignment goals are strategies to minimize PJK and PJF. The ability to perform aggressive global realignment of spinal deformities has also led to the discovery of new complications such as the PJK and PJF. Continuous research on PJK and PJF should be proceeded in order to comprehend the pathophysiology of these complications.
Adult* ; Congenital Abnormalities* ; Humans ; Kyphosis* ; Ribs ; Risk Factors

Orbital hypertelorism is an increased distance between the bony orbits and can be caused by frontonasal malformations, craniofacial clefts, frontoethmoidal encephaloceles, glial tumors or dermoid cysts of the root of the nose, and various syndromic or chromosomal disorders. We report a series of 7 cases of hypertelorism that were treated in our hospital. The underlying causes in our series were craniofacial clefts 0 to 14 (4 cases), craniofacial clefts 1 to 12 (1 case), and frontonasal encephalocele (2 cases), all congenital. Surgical techniques used to correct the deformity were box osteotomy and medial wall osteotomy with or without calvarial and rib grafts. A few of our cases were reoperations with specific challenges.
Chromosome Disorders ; Congenital Abnormalities ; Dermoid Cyst ; Encephalocele ; Hypertelorism* ; Nose ; Orbit ; Osteotomy ; Ribs ; Transplants

Axial mesodermal dysplasia complex (AMDC) arises in variable combinations of craniocaudal anomalies such as musculoskeletal deformities, neuroschisis, or rhombencephalic developmental disorders. To the best of our knowledge, the co-existence of AMDC with associated musculoskeletal anomalies, medullary neuroschisis with mirror movements, and cranial nerve anomalies has not yet been reported. Here, we report the case of a 4-year-old boy whose clinical features were suggestive of Goldenhar syndrome and Poland syndrome with Sprengel deformity. Moreover, he showed mirror movements in his hands suspected of rhombencephalic malformation, and infranuclear-type facial nerve palsy of the left side of his face, the opposite side to the facial anomalies of Goldenhar syndrome. After conducting radiological studies, he was diagnosed with medullary neuroschisis without pontine malformations and Klippel-Feil syndrome with rib anomalies. Based on these findings, we propose that clinical AMDC can be accompanied by a wide variety of musculoskeletal defects and variable degrees of central nervous system malformations. Therefore, in addition to detailed physical and neurological examinations, imaging studies should be considered in AMDC.
Central Nervous System ; Child, Preschool ; Congenital Abnormalities ; Cranial Nerves ; Facial Nerve ; Goldenhar Syndrome ; Hand ; Humans ; Klippel-Feil Syndrome ; Male ; Medulla Oblongata ; Mesoderm* ; Neurologic Examination ; Paralysis ; Poland Syndrome ; Rhombencephalon ; Ribs

PURPOSE: Bottoming-out deformity is accepted as the most important disadvantage of inferior pedicle breast reduction. For prevention of this deformity, different techniques are used in combination with inferior pedicle. In this study, we aimed to prevent bottoming-out deformity by producing an internal bra effect through combination of inferior pedicle technique with 2 superior and 2 inferior dermal flaps that were raised from each side of the pedicle. METHODS: Thirteen patients whose medical records became available during the follow-up period at Ankara Training and Research Hospital from January 2010 to January 2015 were included in this study. We retrospectively obtained patient medical records including demographic characteristics and clinical data. Superior dermal flaps were planned on both sides of the pedicle 2 cm inferior to the lower border of areola and inferior dermal flaps were planned 6 cm inferior to the superior dermal flaps. The superior and inferior dermal flaps were secured to the periosteum of the 2nd and 4th ribs respectively with permanent sutures. RESULTS: Preoperatively, the average distance between the inframammary fold and areola was 13.9 cm (range, 11-18 cm). The average amount of breast parenchymal resection was 745 g (range, 612-1,496 g). The average distance between the inframammary fold and the lower border of the areola was 7.9 cm (range, 7.5-9 cm) on the postoperative first-year measurements. CONCLUSION: In conclusion, according to our study, suspension technique to prevent bottoming-out deformity is associated with an easier technique without the need for alloplastic or allogenic materials. Since fixation is performed to the ribs instead of soft tissues like the pectoral fascia or muscle, we believe that this fixation is more long lasting and can be an effective alternative to other suspension techniques.
Breast* ; Congenital Abnormalities ; Fascia ; Female ; Follow-Up Studies ; Humans ; Mammaplasty ; Medical Records ; Periosteum ; Retrospective Studies ; Ribs ; Sutures

OBJECTIVETo investigate the characteristics and incidence of the thoracic deformities in patients with microtia.

METHODSIn Plastic Surgery Hospital, we conducted a retrospective study of the clinical and radiographical data of 300 patients with microtia from March 2013 to October 2014. Pearson χ2 test was used to analyze the relationship among deformities of ribs and spine, as well as microtia.

RESULTSA total of 78 (26.0%) patients were documented with rib deformities, 26 patients (8.7%) had spinal deformities, and 17 patients (5.7% )had both. The incidence of rib deformities in microtia I, II, and III was 7.1% (2/28), 26.7% (62/232) and 35.0% (14/40) respectively. The incidence of spinal deformities in microtia I, II, and III was 3.6% (1/28), 6.5% (15/232) and 25.0% (10/40 respectively. The patients with microtia III were found to have a higher incidence of ribs and spinal deformities than those with microtia II, patients with microtia II were found to have a higher incidence of ribs and spinal deformities than those with microtia I (P < 0.05).

CONCLUSIONSThe incidence of ribs and spinal deformities is high in patients with microtia. The poorer one auricle developed, the higher the incidence of thoracic deformities.

Biomedical Research ; Congenital Microtia ; epidemiology ; Humans ; Incidence ; Retrospective Studies ; Ribs ; abnormalities ; Spine ; abnormalities

BACKGROUND: The costal cartilage allows for versatile and stable cartilage supply for rhi-noplasty but disadvantages remain; to minimize these, the 10th costal cartilage was used. We present our experience with the use of the 10th costal cartilage as autologous graft material for rhinoplasty. METHODS: Sixty-four patients whose 10th costal cartilage had been used for correction of severe caudal nasal deviation, secondary cleft lip nasal deformity, and secondary rhi-noplasty with difficulty using the septal and auricular cartilages were enrolled in this study from November 2008 to December 2012. To evaluate the efficacy and safety of this method in rhinoplasty, donor-site morbidity, scarring, and postoperative results, including availability of graft material and complications, were assessed. RESULTS: The mean time for cartilage harvesting was 18 minutes, and the mean length of the harvested cartilage was 2.4 cm. The harvested cartilage was used for columellar struts and tip onlay grafts. The natural curvature of the 10th costal cartilage was used, depending on the purpose of the strut. It could be applied without carving in 38 cases (59%). Although revision was performed in three patients, there were no graft-related complications. CONCLUSIONS: The 10th costal cartilage can be harvested safely and quickly, and its han-dling procedure is simple. As such, it is a good option as an autologous graft for rhinoplasty.
Cartilage* ; Cicatrix ; Cleft Lip ; Congenital Abnormalities ; Ear Cartilage ; Humans ; Inlays ; Rhinoplasty* ; Ribs* ; Transplants*