Síndrome de Poland: a propósito de un caso / Poland syndrome: presentation of a case

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Síndrome de Poland: descripción de un caso en la sala de partos / Poland syndrome: Description of a case in the delivery room

El Síndrome de Poland es un trastorno congénito raro que se caracteriza por la ausencia o hipoplasia unilateral del musculo pectoral mayor asociado a malformaciones en la extremidad superior y tejido mamario ipsilateral. Las manifestaciones clínicas en los recién nacidos solamente se describen en la literatura, por lo tanto muchos aspectos de su presentación en las guarderías son ignoradas. Presentamos el caso de un recién nacido que manifiesta una respiración paradójica desde el momento del nacimiento. Este tipo de hallazgo clínico esta vagamente descrito en el Síndrome de Poland y menos aún en el periodo neonatal.

Poland Syndrome is a rare congenital condition characterized by the absence unilateral pectoralis major muscle. it can be associated with other multiple malformations usually in the same affected side. The clinical manifestation in newborns are merely described in the literature, therefore many aspect in its presentation in the nursery are ignored. We present the case of a newborn manifesting paradoxical breathing since birth. This clinical finding is barely describe in poland's syndrome and even less during newborn period.

Malformations attributed to the process of vascular disruption.

BACKGROUND: Several malformations have been attributed to the process of vascular disruption. The central hypothesis for this etiology is that blood flow to a structure has been altered after that structure had formed normally. The decreased blood flow leads to hypoxia, endothelial cell damage, hemorrhage, tissue loss, and repair. After recovery, some structures are normal and others show either tissue loss or structural abnormalities, such as syndactyly and constriction rings. METHODS: The phenotypic features of the 7,020 infants with one or more malformations, who were born to women who had always planned to deliver at Brigham and Women's Hospital (BWH) between, 1972 and 2012, that is, maternal nontransfers, were reviewed. The phenotypes associated with vascular disruption, such as the amniotic band syndrome and terminal transverse limb defects (TTLD), were identified. RESULTS: One hundred and five fetuses and infants had malformations attributed to the process of vascular disruption. Some specific causes of the amniotic band limb deformity were identified. TTLD with associated small digit-like nubbins occurred at three levels: proximal forearm, wrist, and metacarpal-phalangeal joint. Other causes included severe hemoglobinopathies and exposures to misoprostol and to prenatal procedures. CONCLUSIONS: Malformations attributed to the process of vascular disruption were a distinctive entity, among the recognized etiologies. The timing of the causative event in the first trimester was established for infants with exposures to either the prostaglandin misoprostol or the prenatal diagnosis procedure chorionic villus sampling. One challenge is to identify the developmental steps in vascular disruption when no causative exposure can be identified.

The incidence of facial vessel agenesis in patients with syndromic congenital facial palsy.

BACKGROUND: Congenital facial palsy can result in significant disfigurement. A potential treatment option is free functional muscle transfer to reanimate the face. For this to be possible, a suitable recipient artery and vein must be present in the affected hemiface. In this study, the authors aim to identify whether patients with syndromic congenital facial palsy have a higher rate of facial vessel agenesis than those with isolated congenital facial palsy. METHODS: Patients were identified between November of 2006 and October of 2013. Patients were stratified into two groups: those with syndromic congenital facial palsy and those with isolated congenital facial palsy. The presence or absence of facial vessels was determined intraoperatively. RESULTS: Forty-seven eligible patients were included in the study. Those with syndromic congenital facial palsy were significantly more likely to have an absent facial vein than patients with isolated congenital facial palsy (p = 0.015). There was a strong trend toward those with syndromic facial palsy lacking a facial artery (p = 0.08). Subgroup analysis of patients with Möbius syndrome revealed that these patients were significantly more likely to have facial artery agenesis than those with isolated congenital facial palsy (p = 0.03). CONCLUSIONS: Facial vessel agenesis is significantly more common in patients with syndromic congenital facial palsy compared with those with isolated congenital facial palsy. This must be considered in the preoperative planning for facial reanimation with free functional muscle transfer. The operating surgeon should consider vascular studies of the affected hemiface before undertaking the procedure.

Poland syndrome: an algorithm to select the appropriate chest wall surgical reconstructive treatment.

AIM: Poland syndrome is a constellation of rare congenital anomalies of the chest wall, with or without alterations to the ipsilateral superior extremity. Actually Foucras' classification is commonly used to choose the most appropriate surgical treatment, but often only a radiological classification proves unsatisfactory in order to achieve the best aesthetic result. MATERIAL AND METHODS: Since November 2006 in our institute have been treated 6 patients (3 M, 3 F) with Poland Syndrome affected by only chest wall and/or breast deformities. RESULTS: We treated 6 patients opting for different surgical procedures, depending on the deformity detected. We experienced only one procedural complication, a fat necrosis with superior migration of the prosthesis, successfully managed. DISCUSSION: Surgical alternative treatments of the Poland's abnormalities of the chest wall are independent from the corrective surgery of the ipsilateral affected forearm ad hand. Surgeons should be able to develop an operative plan to address aesthetic goals while preserving muscular functionality. Indeed surgical techniques should be minimally invasive and possible available in every hospital structure. CONCLUSIONS: This study has been designed to review a series of surgical options of breast reconstruction in patients with Poland Syndrome in order to develop a new flow chart to plan the best surgical choice analyzing only breast/chest wall deformities according to Blondeel's point of view about reconstruction of the new breast and thoracic wall. KEY WORDS: Breast reconstruction, Poland syndrome.

[Poland's syndrome and free autologous fat grafts]. / Síndrome de Poland e injertos libres de grasa autóloga.

OBJECTIVE: To evaluate the final reconstructive results in 6 cases of female Poland syndrome treated in a first stage with an anatomical high cohesive breast implants and in a second stage with free autologous fat grafts. METHODS: Six females were submitted to bilateral breast reconstruction. The reconstruction was done using anatomical breast implants as first step and after 11 to 18 months the free autologous fat grafting using the Coleman technique as well as treating the contralateral breast to achieve a better symmetry and volume. Photographies taken pre and postoperatively and the Foucras Classification were used to determine volume. Four months after the last surgery the patients answered a satisfaction questionnaire. RESULTS: In all 6 patients there was an improvement of the thoracic contour a year after the last surgery in terms of volume, projection and width of the breast. CONCLUSIONS: The use of free autologous fat grafts improves the results in cases of Poland's syndrome previously treated with breast implants making possible to correct the anterior axillary fold, projection and symmetry with a versatile method, with a low morbidity rate, allowing for a personalized treatment.

Hybrid procedure for Poland syndrome associated with a Gerbode-type defect.

Poland syndrome and Gerbode-type defect are both very rare congenital malformations. A combination of them is extremely uncommon and no literature has reported this before. We herein present a case of this combination in a 9-year-old boy. Besides the reconstruction of the chest wall, a device closure of the Gerbode-type defect was also planned due to the risk of infective endocarditis. In order to minimize the injury, an innovative hybrid therapeutic strategy was chosen to treat two anomalies simultaneously in one incision.

Eight patients with multiple bilateral thoracic anomalies: a new syndrome or bilateral Poland's syndrome?

BACKGROUND: Poland's syndrome is a rare congenital anomaly characterized by an absence or hypoplasia of the greater and smaller pectoral muscles, breast or nipple anomalies, hypoplasia of subcutaneous tissue, chest wall deformities, pectoral and axillary alopecia, and hand anomalies. Poland's syndrome is usually unilateral. We present 8 patients with multiple bilateral thoracic anomalies. METHODS: Eight patients were admitted to our clinic with an abnormal thoracic appearance and restriction of shoulder mobilization. Bilateral multiple muscles, including the greater pectoral muscle and some other thoracic muscles, could not be palpated during physical examination. All patients were evaluated, with a preliminary diagnosis of bilateral Poland's syndrome. RESULTS: All patients exhibited partial or complete absence of bilateral greater pectoral muscles, absence or hypoplasia of bilateral smaller pectoral muscles, bilateral shoulder protrusion to the front, limited abduction of both shoulders, absence or hypoplasia of other bilateral thoracic muscles (serratus anterior, latissimus dorsi, and trapezius muscles), and scapula alata. CONCLUSIONS: All patients with Poland's syndrome have unilateral hypoplasia or absence of the greater pectoral muscle as the main feature. Poland's syndrome is routinely described as a unilateral syndrome. Cases of Poland's syndrome are typically sporadic. Our patients had different additional bilateral anomalies. In particular, the main problems our patients had were the position of the shoulders and limited abduction of both upper extremities. In contrast to patients with Poland's syndrome, half of our cases were familial. We consider our patients important examples in that they either present a new syndrome or show that Poland's syndrome can be bilateral.

Poland's syndrome: a case report with review of literature regarding management.

BACKGROUND: Poland's syndrome is a rare congenital anomaly described by Alfred Poland in 1897 which is characterize by partial or complete absence of the pectoralis major muscle, ipsilateral symbrachydaktylia and occasionally associated with other malformations of the anterior chest wall and breast. The incidence of Poland's syndrome is 1: 30,000 and it is more commonly seen in males. CASE DESCRIPTION: A 22-year-old female presented with a history of chest wall depression and a small sized left breast. On examination she had unilateral hypoplasia of the left breast, absence of the anterior axillary fold and hypoplastic pectoralis major and minor muscle with mild pectus excavatum. The patient's breast was reconstructed with an autologous anterolateral thigh (ALT) perforator flap after using an expander. DISCUSSION: This case illustrates the potential benefit of utilizing autologous ALT perforator flap in a girl with Poland's syndrome with a deformed chest wall with hypoplasia of pectoral muscles and absence of the anterior axillary fold which makes positioning of an implant difficult. Breast reconstruction using a microvasular perforator flap is an alternative method to restore the contour of the chest and breast without the use of an implant.