Identification of certain abnormalities of the chest wall can be extremely helpful in correctly diagnosing a number of syndromic conditions and systemic diseases. Additionally, chest wall abnormalities may sometimes constitute diagnoses by themselves. In the present pictorial essay, we review a number of such conditions and provide illustrative cases that were retrospectively identified from our clinical imaging database. These include pentalogy of Cantrell, Klippel-Feil syndrome, cleidocranial dysplasia, Poland syndrome, osteopetrosis, neurofibromatosis type 1, Marfan syndrome, Gardner syndrome, systemic sclerosis, relapsing polychondritis, polymyositis/dermatomyositis, ankylosing spondylitis, hyperparathyroidism, rickets, sickle cell anemia, thalassemia, tuberculosis, septic arthritis of the sternoclavicular joint, elastofibroma dorsi, and sternal dehiscence.
Anemia, Sickle Cell ; Arthritis, Infectious ; Cleidocranial Dysplasia ; Diagnosis ; Gardner Syndrome ; Hyperparathyroidism ; Klippel-Feil Syndrome ; Marfan Syndrome ; Neurofibromatosis 1 ; Osteopetrosis ; Pentalogy of Cantrell ; Poland Syndrome ; Polychondritis, Relapsing ; Retrospective Studies ; Rickets ; Scleroderma, Systemic ; Spondylitis, Ankylosing ; Sternoclavicular Joint ; Thalassemia ; Thoracic Wall ; Tuberculosis

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

Poland syndrome, also known as pectoral aplasia-dysdactylia syndrome, is a rare anomaly, characterized by aplasia of the pectoralis major muscle with ipsilateral upper extremity anomalies. The cause of Poland syndrome is still unknown. Several twin patients were reported to propose a genetic or nongenetic hypothesis. We experienced a female baby showing absence of the pectoralis major muscle in a pair of mixed twin. The patient was referred to our hospital for evaluation of an asymmetric chest wall. She showed depression of the left chest wall, ipsilateral nipple hypoplasia, and axillary webbing. A chest CT scan showed aplasia of the left large pectoral muscle. Our patient had no abnormalities such as symbrachydactyly in an ipsilateral upper extremity. In comparison, a physical examination showed that the fraternal twin boy was completely normal.
Depression ; Female ; Humans ; Male ; Nipples ; Physical Examination ; Poland Syndrome* ; Poland* ; Thoracic Wall ; Tomography, X-Ray Computed ; Twins ; Twins, Dizygotic* ; Upper Extremity

BACKGROUNDSince its first description in 1841, numerous variations and treatments of Poland's syndrome (congenital deficiency of the pectoralis major muscle associated with brachysyndactyly) have been reported. None of the reports, however, involved female Chinese patients.

METHODSA retrospective study of 24 female patients was conducted to guide the selection of methods of surgical reconstruction. The patients were divided into three groups according to the degree of thoracic tissue development. Type I (mild): Limited tissue loss which can be treated with simple filling with autologous fat and/or an artificial breast implant. Type II (moderate): Moderate thoracic tissue hypoplasia where the breast parenchyma can still offer adequate implant coverage. Mammoplasty using a latissimus dorsi muscular flap with an implant was performed in this group. The flap was used to fill the infraclavicular hollow, and the implant was placed in the dual-plane pocket. Type III (severe): Severe thoracic tissue hypoplasia, without sufficient parenchyma to offer implant coverage. A latissimus dorsi muscular flap was used to form a total submuscular pocket in which an implant was placed.

RESULTSThe numbers of Type I, II, and III patients were 15, 3, and 6, respectively. All of the flaps and injected fat demonstrated good survival. Satisfactory cosmetic results were exhibited during the follow-up period of 1 to 9 years.

CONCLUSIONSAlthough this group of patients showed varied conditions, they can be roughly divided into three types according to the degree of thoracic tissue development. In our experience, this classification is simple and useful in choosing the breast reconstruction options.

PURPOSE: Poland syndrome is rare disease which is characterized by absence of unilateral pertoralis major muscle accompanied by ipsilateral syndactyly or brachydactyly, which was described first by Alfred Poland in 1841. MATERIALS AND METHODS: We performed the physical examination, laboratory test and radiologic evaluation to 18 year old male, who complaint asymmetry of right anterior chest. RESULTS: We diagnosed the Poland syndrome due to absence of right pectoralis major muscle and brachydactyly of right hand. CONCLUSION: Current authors report a patient who had hypopalsia of pectoralis muscles, which needed differential diagnosis with pectoralis major rupture.
Brachydactyly ; Diagnosis, Differential ; Hand ; Humans ; Male ; Muscles ; Pectoralis Muscles ; Physical Examination ; Poland ; Poland Syndrome ; Rare Diseases ; Rupture ; Syndactyly ; Thorax

PURPOSE: Poland's syndrome encompasses a constellation of congenital chest wall, breast, and upper extremity deformities. We would like to present several techniques, which may be combined if necessary, used to treat the forms involving both the breast and chest wall according to the degree of deformity. METHODS: In a retrospective series of 9 patients(3 men and 6 women), we report our experience with reconstructing breast and chest contour deformities associated with Poland syndrome. We recorded their age, gender, the surgical techniques, and the grade in Poland's syndrome according to the classification of Foucras. RESULTS: The breast and chest wall deformities associated with Poland syndrome can be treated in individualized fashion according to the classification of Foucras. In case of 3 male patients with gradeI, II, the latissimus dorsi muscle pedicled flap improved the chest contour deformity. 3 female patients with grade II underwent the latissimus dorsi muscle pedicled flap with breast implant. 2 female patients with gradeIunderwent breast reconstruction with breast implant and fat injection each other. One female patient with severe chest wall deformity(grade III) underwent breast reconstruction using the free TRAM flap. All patients were satisfied with the results without specific complications. CONCLUSION: The Individualized correction for this syndrome according to the degree of patient's deformity and preference made the overall satisfaction of the patients high.
Breast ; Breast Implants ; Congenital Abnormalities ; Female ; Humans ; Male ; Mammaplasty ; Muscles ; Poland Syndrome ; Retrospective Studies ; Surgical Flaps ; Thoracic Wall ; Thorax ; Upper Extremity

Poland syndrome is a rare congenital anomaly characterized by unilateral chest wall hypoplasia and ipsilateral upper extremity abnormalities, usually on the right side. It can be combined with other anomalies such as scapular deformity of the affected side, and hypoplasia or absence of nipple. Typical surgery for a Poland syndrome patient aims to correct the chest wall defect and/or other abnormalities. Ventilation problem such as paradoxical chest movement can occur during anesthesia. We report management of general anesthesia of a Poland syndrome patient with right chest wall defect undergoing inframammary fold reposition and liposuction.
Anesthesia ; Anesthesia, General ; Congenital Abnormalities ; Humans ; Lipectomy ; Nipples ; Poland ; Poland Syndrome ; Thoracic Wall ; Thorax ; Upper Extremity ; Ventilation

Poland syndrome is characterized by unilateral absence or hypoplasia of the pectoralis muscle and variable degree of ipsilateral hand anomalies. Mobius syndrome is a congenital neurological disorder characterized by complete or partial facial paralysis. Although the pathogeneses of these diseases are not well-characterized, diminished blood flow to the affected side is thought to play a role. A male infant weighing 2.670 g was born at 38+3 weeks of gestation with left facial paralysis, left chest wall defect with dextrocardia, and symbrachydactyly between the second and third fingers. The combination of Poland-Mobius syndrome is rare, and only 2 cases associated with dextrocardia have been reported worldwide. Here, we report the first case of Poland-Mobius syndrome associated with dextrocardia in Korea.
Dextrocardia ; Facial Paralysis ; Fingers ; Hand ; Humans ; Infant ; Korea ; Male ; Mobius Syndrome ; Nervous System Diseases ; Pectoralis Muscles ; Poland Syndrome ; Pregnancy ; Thoracic Wall

Poland syndrome, which is characterized by an absence of pectoralis muscles and their innervated nerves, is marked by variable chest wall defects due to deficits of 2nd, 3rd, 4th, and 5th ribs and costal cartilage. Additionally, there are other reported combined anomalies of the heart, lung, kidney, ipsilateral hand and foot associated with the syndrome. The lung on the side with the thoracic deformity is more hypoplastic or smaller than the lung on the unaffected side, which can cause herniation of the lung or paradoxical ventilatory movement in severe cases, thereby increasing the risk of respiratory depression and hypoxemia. Patients may have profound lung complications due to depressed respiratory muscle function and exacerbation of the underlying chronic pulmonary disease during the perioperative period. These patients also show increased risk of malignant hyperthermia and therefore require careful attention during general anesthesia. We report here an anesthetic experience during reconstruction surgery of a chest wall defect in a male patient with Poland syndrome.
Anesthesia ; Anesthesia, General ; Anoxia ; Cartilage ; Congenital Abnormalities ; Foot ; Hand ; Heart ; Humans ; Kidney ; Lung ; Lung Diseases ; Male ; Malignant Hyperthermia ; Pectoralis Muscles ; Perioperative Period ; Poland ; Poland Syndrome ; Respiratory Insufficiency ; Respiratory Muscles ; Ribs ; Thoracic Wall ; Thorax

Humans ; Infant, Newborn ; Male ; Poland Syndrome