Síndrome de Poland: reporte de un caso / Poland syndrome. Report of a case

Introducción: 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. Presentación del caso: 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. Discusión: este síndrome puede verse relacionado con enfermedades, como parálisis de los pares VI y VII, lo que conlleva a un mayor número de asociaciones complejas. Se plantea asociado a dextrocardia, que según algunos autores es secundaria a la deformidad torácica producida por malformaciones costales y su efecto sobre la formación cardíaca en el periodo embrionario. No se han observado deficiencias mentales ni trasmisión genética de la enfermedad. Se ha descrito de forma excepcional, asociación familiar. Esto podía corresponder a una herencia autosómica dominante con penetración reducida. Conclusiones: en este paciente el síndrome de Poland se caracterizó por una hipoplasia del pectoral mayor izquierdo, asociado a malformaciones esqueléticas de la mano del mismo lado(AU)

Introduction: Poland syndrome is a rare congenital disorder characterized by the unilateral absence or hypoplasia of the pectoralis major muscle associated with malformations of the upper limb and ipsilateral breast tissue. Clinical manifestations in newborns are only described in the literature, therefore, many aspects of their presentation in nurseries are ignored. Presentation of the case: we present the case of a newborn who manifests paradoxical respiration from the moment of birth. This type of clinical finding is loosely described in Poland Syndrome and even less in the neonatal period. Discussion: this syndrome can be related to diseases, such as paralysis of pairs VI and VII, which leads to a greater number of complex associations. It arises in association with dextrocardia, which according to some authors is secondary to the thoracic deformity caused by malformations ribs and their effect on cardiac formation in the embryonic period. No mental deficiencies or genetic transmission of the disease have been observed. An exceptional family association has been described. This could correspond to an autosomal dominant inheritance with reduced penetration. Conclusions: in this patient, Poland syndrome was characterized by hypoplasia of the left pectoralis major, associated with skeletal malformations of the hand on the same side(EU)

Poland syndrome accompanied by internal iliac artery supply disruption sequence: a case report.

BACKGROUND: Poland syndrome is a congenital malformation characterized by ipsilateral hand and chest wall depression, including an absence or hypoplasia of the breast and pectoral muscles. These hypoplastic defects are reportedly caused by a subclavian artery supply disruption sequence. CASE PRESENTATION: A 45-year-old Japanese woman, an out-patient, underwent an emergency examination for intense left lower abdominal pain. Computed tomography images revealed a hydronephrotic left kidney and dilatation of the left ureter. No ureteral calculus or neoplasm was found. In addition, no abnormalities connected to her left abdominal pain were found. Nephritis was diagnosed based on the results of urine analysis, and a course of antibiotics was administered. Computed tomography images also revealed a history of breast reconstruction with a custom-made silicone implant in her right breast. The present case showed symptoms of Poland syndrome, which were absence of the sternal head of the right pectoralis major and asymmetrical malformation of the chest wall due to hypoplasia of the right rib cage. In addition to typical Poland syndrome symptoms, she had hypoplasia of her right kidney, hypoplasia of the right gluteus minimus muscle, right-sided pelvic hypoplasia, spinal curvature to the right, and a cystic mass in her right ovary. CONCLUSIONS: In the present case of Poland syndrome, computed tomography images revealed malformation of the chest wall, absence of the pectoral muscle, and hypoplasia of a left kidney. Unilateral visceral hypoplasia is reported to be caused by a subclavian artery supply disruption sequence that occurs around 7 to 8 weeks of gestation. The present case can be considered a rare atypical phenotype of Poland syndrome with possible subclavian artery supply disruption sequence with internal iliac artery supply disruption.

[Poland syndrome: about a case and review of the literature]. / Syndrome de poland: à propos d'un cas et revue de la litterature.

Poland syndrome is a rare congenital malformation associated with various degrees of thoracic and homolateral upper limb abnormalities. We report the case of a 7-year old girl who underwent exploration for depression of the left hemithorax associated with homolateral subclavicular mass. CT scan showed that the deformation of the thoracic wall was related to the absence of left pectoralis major muscle sterno-costal heads insertion associated with agenesis of the pectoralis minor muscle and hypoplasia of the anterior arches of the first six corresponding ribs. These abnormalities were related to Poland syndrome. General assessment was based on abdominal ultrasound, X-rays of both hands and did not show any associated malformation. Poland syndrome results from a deficit of blood flow to musculoskeletal elements of the chest wall during fetal life. There are many variants of Poland syndrome that can be best detected by CT scan and which must be performed whenever necessary, without omitting the role of general radiology in the detection of associated malformations. This syndrome is characterized by the agenesis of the sternocostal bundles of the pectoralis major muscle. Its etiology remains unknown and discussed. It can be caused by a vascular anomaly, without the primum movens of this vascular anomaly being known.

General anesthesia in patients with syndrome of Poland. / Anestesia general en paciente con síndrome de Poland.

The increased use of surgery as a treatment or as an alternative for improvement means that we have a larger number of patients in the operating theatre, including those who suffer from rare diseases. Poland Syndrome is a rare congenital disease associated with muscle development. These patients may have a broad spectrum of abnormalities, which include thoracic anomalies, which can alter the ventilatory management at the level of the airway; the possible onset of malignant hyperthermia. This leads the anaesthetist to take certain preventive measures. We report the case of a patient with Poland syndrome operated for the placement of a breast prosthesis. We avoid halogenated agents, and use a Total Intravenous Anaesthesia with propofol. The appearance of muscle spasms as a result of the use of propofol, forced us into a second anaesthesia to perform total intravenous anaesthesia with Midazolam.

Bipolar Latissimus Dorsi Transfer for Restoration of Pectoralis Major Function in Poland Syndrome.

BACKGROUND: Poland syndrome typically presents as a unilateral congenital complete or partial absence of the pectoralis major muscle, variably with other associated anomalies. Reconstruction of the defect typically concentrates on aesthetic restoration with functional outcomes being unsuccessful or limited. We present an innovative means of true muscle transfer that provided functional benefit to increase upper extremity strength. CASE REPORT: A 16-year-old adolescent boy with Poland syndrome manifesting as left pectoralis major muscle agenesis wished to undergo functional reconstruction. He wanted to play on his high school football team, but could not meet the minimum weightlifting requirements. An ipsilateral latissimus dorsi muscle bipolar functional transfer was done with bone-anchored inset into the sternum and humerus so that muscle flexion would replace the absent pectoralis major. A progressive weight training program was then instituted postoperatively. At 9 months, a significant increase in left upper extremity strength was confirmed. The patient ultimately was able to surpass the weightlifting requirements for his high school football team, and joined the team. CONCLUSIONS: Our highlighted procedure restored functional outcome using both plastic surgical principles and orthopedic techniques for muscle and tendon repair: bipolar muscle transfer and load-bearing muscle inset. Heretofore, transfer of the latissimus for provision of pectoralis major function has not been reported. Functional reconstruction was possible due to stable, bipolar muscle transfer with load-bearing muscle attachments into cortical bone of the anterior sternum and anteromedial aspect of the humerus. The techniques described should be within the skill set of most plastic surgeons, so that functional restoration for those with Poland syndrome is possible and accessible.

Poland's syndrome: a concise review of the clinical features highlighting associated dermatologic manifestations.

Poland's syndrome is a rare congenital condition characterized by absence of the pectoralis major muscle and a wide spectrum of associated ipsilateral chest wall and upper extremity anomalies. Associated dermatologic anomalies classically include pectoral and axillary alopecia, anhidrosis due to the absence of sweat glands, and deficiency in subcutaneous fat. Functional limitations are minimal, and thus surgical correction is primarily indicated for aesthetic purposes. Chest wall reconstruction typically involves transposition of a latissimus dorsi myocutaneous flap with or without a temporary subcutaneous tissue expander prior to surgical reconstruction. Using the PubMed database, a literature review was done on Poland's syndrome. We summarize the key features of Poland's syndrome, including the epidemiology, clinical presentation, pathogenesis, and management, and highlight the dermatologic associations reported in the literature.

The abnormalities of trapezius muscle might be a component of Poland's syndrome.

Poland's syndrome is a rare unilateral congenital anomaly characterized by the absence of the pectoral muscle and hand anomalies. By the time, new components including the absence or hypoplasia of many muscles have been identified, however, the anomalies of trapezius muscle have not been reported in patients with Poland's syndrome. The accepted etiological theory is the temporary interruption of blood supply of the subclavian artery and its branches in the early gestational period. The artery of the trapezius muscle is also one of the branches of subclavian artery. Just because of that, it is likely to trapezius muscle be affected in patients with Poland's syndrome. We are presenting a case of Poland's syndrome associated with unilateral partial absence of trapezius muscle to support this hypothesis.

Dos nuevos casos de secuencia Poland: consideraciones terminológicas y diagnósticas / Two new case reports of Poland´s sequence: terminology and diagnostic considerations

Introducción. Los criterios diagnósticos, así como la nomenclatura que tipifica el síndrome de Poland, varían en las distintas series publicadas. Anomalía, secuencia o complejo malformativo son otras de las denominaciones utilizadas. El reconocimiento de la existencia de diferentes casos familiares en que algunos pacientes presentan la anomalía completa y otros sólo la hipoplasia aislada del músculo pectoral sugiere que esta última forma de presentación es una variante monotípica de la enfermedad. Dos nous casos de seqüència Poland: consideracions terminològiques i diagnòstiques Josep Maria Roquer, Rebeca Sarrat, Montserrat Lozano Servei de Pediatria. ABS Sant Fost de Campsentelles. Barcelona Observación clínica. Se presentan dos casos de afectación de la musculatura pectoral izquierda diagnosticados en la edad puberal (paciente 1: agenesia pectoral mayor, y paciente 2: hipoplasias pectorales mayor y menor) que tienen como única malformación asociada la ausencia de vello axilar homolateral. Comentarios. La existencia de una serie de olvidos y de imprecisiones históricas puede haber contribuido a la confusión diagnóstica y terminológica. El hecho de que se hayan descrito casos familiares con diferentes grados de afectación, algunos de los cuales presentan sólo una hipoplasia del músculo pectoral, así como la evidencia de que todas las malformaciones que presentan estos pacientes tienen un origen embrionario común, aconsejan el uso de la denominación de secuencia Poland. Se comentan las particularidades clínicas de estos dos nuevos casos en que el aumento de la masa muscular propia de la edad puberal parece haber sido determinante para la realización del diagnóstico (AU)

Introduction. The diagnostic criteria and terminology that characterize Poland’s syndrome vary in the different published series. Anomaly, sequence or malformation complex are some of the other terms used. Acknowledging the existence of different family cases in which some patients show the complete anomaly while others only the isolated hypoplasia of the pectoralis muscle suggests this latter form to be a monotypic variant of the syndrome. Case reports. We report two cases of absence of the left chest muscle diagnosed at puberty (patient 1: agenesis of the pectoralis major and patient 2: hypoplasia of the pectoralis major and minor muscles) with homolateral absence of axillary hair as the only associated malformation. Comments. Historically, the existence of a series of oversights and lack of accuracy may have contributed to confused diagnosis and terminology. The fact that family cases with different degrees of involvement, some of which only show hypoplasia of the pectoralis muscle, have been described and the evidence that all the malformations shown by these patients share a common embryonic origin argue for the use of the term Poland’s sequence. We report the clinical features of two new cases in which the muscular mass gain typical of puberty appears to have been crucial in making the diagnosis (AU)

Poland-Mobius syndrome in an infant girl.

Mobius syndrome is a rare condition of unclear origin, characterized by a unilateral or bilateral congenital facial weakness with impairment of ocular abduction, which is frequently associated with limb anomalies . Poland described a condition in which there was unilateral absence of pectoralis major muscle and ipsilateral syndactyly. The combination of Poland-Mobius syndrome is rare, with an estimated prevalence 1:500 000. We describe a case of Poland-Mobius syndrome in association with congenital bilateral vocal fold immobility. To our knowldge, this is the first report of such an association between Poland-Mobius syndrome and congenital bilateral vocal fold immobility.

Disorders of the female breast in the pediatric age group.

SUMMARY: Disorders of the female breast in the pediatric age group are a relatively common finding; however, there is limited information in the current literature. The plastic surgeon treating these patients is faced with a wide range of reconstructive problems. By understanding the various breast disorders, the plastic surgeon can better diagnose and treat this patient population appropriately.

Síndrome de Poland: descripción de dos casos familiares / Poland syndrome: description of two patients in the same family

El síndrome de Poland es una alteración congénita consistente en la ausencia total o parcial del músculo pectoral mayor y anomalías de la mano homolateral. Se puede asociar con otras malformaciones pectorales, cervicales, intratorácicas e incluso braquiales. Se desconoce su causa exacta, pero parece corresponder a una alteración en la circulación embrionaria durante la gestación. La mayoría de los casos descritos son esporádicos. Sólo de forma excepcional se han comunicado casos familiares. Se presentan dos casos cuya peculiaridad es que son casos familiares (primos) y que su malformación afecta principalmente a los músculos pectorals (AU)

Poland syndrome is a congenital condition that consists of the unilateral absence of the large pectoral muscle, ipsilateral sympbrachydactyly, and is occasionally associated with other malformations of the anterior chest wall and breast. The aetiology of Poland's syndrome is unknown, although it is believed to be caused by an interruption or reduction in the embryonic circulation during pregnancy, and the majority of reported cases are sporadic. Only in a few instances there is a familial incidence. We describe the occurrence of Poland's syndrome in two cousins and the malformation is mainly in the large pectoral muscle (AU)

Poland's syndrome and military personnel.

We describe three cases of undiagnosed Poland's syndrome in Army personnel and discuss their fitness according to the PULHHEEMS system. This syndrome has variable clinical features that include unilateral chest wall and upper limb abnormalities. The syndrome is not hereditary and is of unknown origin. If the syndrome was diagnosed prior to enlistment the potential recruit would normally be graded P8, and unfit to enlist. However, these individuals had managed to pass routine medical examination as well as successfully complete basic training. The suitability of continuation in the army of personnel with Poland's syndrome is discussed.

[A Japanese case of Poland-Möbius syndrome].

We herein report a Japanese case of Poland-Möbius syndrome. The patient was a 19-year-old female. She was the product of a full-term forceps delivery. Birth weight was 2500 g. She had a defect of the right pectoral muscle, and syndactyly of the right hand. When she was 10 days old, facial diplegia, bilateral abducens nerve palsy, and bilateral ptosis were also noted. She was admitted to our hospital at 19 years of age. On physical examination, she had microsyndactyly of the right hand, and her right pectoralis major muscle was absent. Neurological examination revealed bilateral abducens nerve paresis, mild impairement of the upward and adducting movement of both eyes and bilateral facial weakness and atrophy of the left side of her tongue. Her karyotype was normal. Neither R 1 nor R 2 response was evoked in the blink reflex on either side. Brain MRI disclosed thin facial nerves and atrophy of the pons and medulla. Therefore, she was diagnosed as a case of Poland-Möbius syndrome. In this case, the facial nerves were considered to be hypoplastic.

Síndrome de Poland: uma revisäo / Poland's Syndrome: a review

Os autores apresentam uma revisäo dos principais aspectos da Síndrome de Poland, descrita pela primeira vez em 1841 por Poland, que se caracteriza principalmente pela ausência do músculo peitoral maior, associado à sindactilia, podendo apresentar-se com outras malformaçöes no tórax e membros superiores. Chamam a atençäo para a relativa frequência desta síndrome nos cunsultórios médicos e, portanto, para a necessidade de que o médico generalista seja capaz de identificá-la, permitindo um correto diagnóstico e orientaçäo no tratamento

Peroneal muscular atrophy with Poland syndrome.

A 22-year-old male college student had a syndactyly between the second and third fingers of his left hand, which was congenitally small in size. His left pectoralis muscles were absent. He first walked at the age of 12 months, but soon developed difficulties in walking due to weakness of the legs. Atrophy and weakness of the legs aggravated gradually. He was diagnosed as having peroneal muscular atrophy and Poland syndrome, an association of which has not been reported before. A small number of similar cases of peroneal muscular atrophy with various skeletal abnormalities in the literature suggest that the association is not incidental, but of clinical significance.