Poland syndrome: A proposed classification system and perspectives on diagnosis and treatment.

Poland Syndrome (PS) is a rare condition, with an estimated incidence of approximately 1 per 30,000 births and encompasses a wide range of severities of chest and upper arm anomalies. The etiology remains unknown, but genetic involvement is suspected. Few radiological investigations have proven useful in the study PS phenotypes and we propose a reference algorithm for guiding pediatricians. Our experience with 245 PS patients in the last 10 years stimulated a phenotypical classification of PS. The management of the different PS types and a therapeutic algorithm according to the phenotypical features of each PS patient are also proposed.

Deformidad de la caja torácica / Chest wall deformity

Resumen Las deformidades de la caja torácica se pueden dividir en dos tipos, las que son productos del desarrollo anormal del pecho en el crecimiento y las congénitas que son las secundarias a una malformación estructural del pecho evidente en el nacimiento. Las malformaciones del desarrollo son las más comunes, como por ejemplo pectus excavatum o pectun carinatum. Las menos comunes son las de tipo congénito: síndrome de Poland, displasia espondilotorácica, displasia espondilocostal, síndrome de Jeune y los defectos de la costilla o el esternón. Las deformidades del pecho de tipo congénita se caracterizan por afectar la relación entre la columna vertebral, la caja torácica y los pulmones. La mayoría de estos pacientes desarrollan un disturbio respiratorio progresivo de tipo restrictivo conocido como Síndrome de Insuficiencia Torácica. Este síndrome se define como la deficiencia de la caja torácica para mantener una respiración normal y sostener el crecimiento fisiológico del pulmón. En este artículo discutiremos varias condiciones que afectan el desarrollo y función de la caja torácica.

Chest wall deformities are divided as an abnormal development during the growth or those secondary to a congenital malformation. The developmental type is the most common: pectus excavatum or pectus carinatum. The less common are the congenital types of chest wall abnormalities: Poland's syndrome, Jeune's syndrome, espondylothoracic dysplasia, espondylocostal dysplasia and defects of the ribs or sternum. The congenital type usually affects the relationship between the spine, rib cage and the lungs. Therefore, many of these patients will develop a progressive respiratory disturbance of restrictive type known as Thoracic Insufficiency Syndrome. Thoracic insufficiency syndrome is defining as a deficiency of the rib cage to maintain a normal respiration and to sustain the physiological growth of the lungs. In this article will discuss several conditions that will affect the development and function of the chest wall.

Anomalías pulmonares congénitas y de la pared torácica / Congenital lung and chest wall malformations

El propósito de este artículo es evaluar las lesiones congénitas pulmonares y de la pared torácica que se pueden detectar desde la etapa fetal hasta alcanzar el desarrollo adulto. Nos hemos centrado en las patologías más prevalentes en ambos campos: malformaciones pulmonares congénitas aéreas (MPCA), secuestro broncopulmonar, enfisema lobar congénito, atresia bronquial y quiste broncogénico, en cuanto a las lesiones de parénquima pulmonar, y pectus excavatum, pectus carinatum, pectus arcuatum y síndrome de poland en el grupo de lesiones de pared torácica. Hemos evitado las descripciones casuísticas y las prolijas explicaciones quirúrgicas para centrarnos en la clínica y en el manejo inicial de estas malformaciones

The aim of this study was to evaluate congenital lung lesions and chest-wall deformities that can be diagnosed from the fetal period until the adulthood. We focused on the most prevalent lesions of each group: Congenital pulmonary airway Malformation (CpaM), Bronchopulmonary Sequestration, Congenital lobar emphysema, Bronchial atresia and Bronchogenic Cyst regarding to parenchymal lesions and pectus excavatum, Carinatum and poland's Syndrome in the group of wall defects. We tried to avoid series description or surgical details in order to highlight clinical issues and management decisions

[A neonate with unilateral paradoxical breathing]. / Een neonaat met unilateraal een paradoxale ademhaling.

A 1-day-old male neonate presented with asymmetric thoracic excursions without respiratory distress. He was diagnosed with the Poland syndrome. The Poland syndrome is characterized by an unilateral hypoplastic or absent pectoral muscle. Reconstruction may be considered in case of complex deformities, but patients with the Poland syndrome generally have minor functional impairments.

Síndrome de Poland. A propósito de un caso y revisión de la literatura / Poland syndrome. Case report and review of the literature

El síndrome de Poland es una deformidad congénita poco frecuente, esporádica y de patogenia incierta. Se caracteriza por ausencia/hipoplasia del pectoral mayor, alteraciones de la mano y de la glándula mamaria ipsolateral. Se presenta un caso de un varón con clínica sugestiva de síndrome de Poland en el hemitórax izquierdo, sin alteración de la extremidad superior, aunque asociaba dextrocardia y herniación pulmonar, una relación poco frecuente. Se hace hincapié en la necesidad de contar con un equipo multidisciplinario para su manejo inicial y tratamiento a largo plazo (AU)

The Poland syndrome is a rare, sporadic and congenital deformity with uncertain pathogenesis. It is characterized by absence or hypoplasia of the pectoralis major muscle, malformations of the hand and involvement of the ipsilateral mammary gland. A case of a newborn with clinical manifestations suggestive of Poland syndrome on the left hemithorax, associated dextrocardia and defect pulmonary despite being a rare association. Emphasis on the need for a multidisciplinary team in the initial management and long-term treatment (AU)

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)

Coincidence of Poland's syndrome with Turner's syndrome.

INTRODUCTION: Poland's syndrome (PS) is an inborn defect consisting in unilateral underdevelopment of the pectoralis major muscle, homolateral anomalies of upper extremity, as well as mammary gland aplasia. PS occurrence frequency is determined as 1:7000 to 1:100 000. Turner's syndrome (TS) results from lack of one sex chromosome or its incorrect structure and occurs with a frequency of 1:2000 of female sex newborns. Coincidence of both syndromes may hypothetically occur in 1:14 000 000 of females. CASE REPORT: A 5-year-old girl was diagnosed with a rare coincidence of PS and TS. It is the second description of PS and TS coincidence case in the literature. Low body mass, lymphatic edemas of the feet and developmental defect of the right hand in form of defective palm development and syndactyly were found after birth. At the age of 3, after digit separation procedure, she was referred to an endocrinologist because of short stature (83 cm, -3.35 SDS). Right pectoral muscle and right hand hypoplasia were found during physical examination as well as the presence of dysmorphic characteristics. The result of cytogenetic examination confirmed TS diagnosis. She began treatment with growth hormone at the age of 4.5 years. CONCLUSIONS: Appearance of PS in female patients with TS may dub diagnostic vigilance and delay TS diagnosis. Growth deficit in girls with PS constitutes the indication for karyotype testing.

Síndrome de Poland y alteración de la migración neuronal: reporte de un caso y revisión de la literatura / Poland syndrome and neuronal migration: case report and review of the literature

Poland Syndrome is a rare congenital alteration. It is characterized by hypoplasia or absence of the pectoral muscle, hypoplasia or aplasia of the mammary gland, nipple, ribs or cartilages, and hand malformations. A case is reported of a girl showing these malformations, and neuronal migration abnormalities. Emphasis is made upon the need for a multidisciplinary team for management and rehabilitation. A literature review is presented, including pathogenesis, clinical manifestations and treatment.

El Síndrome de Poland es una alteración congénita de baja frecuencia y de carácter esporádico. Se caracteriza por ausencia o hipoplasia del músculo pectoral; hipoplasia o aplasia de glándula mamaria, pezón, costillas o cartílagos, y malformaciones de la mano. Se reporta el caso de una recién nacida con Secuencia de Poland con trastorno de migración neuronal. Se hace énfasis en la necesidad de un equipo multidisciplinario en su manejo y rehabilitación. Se presenta una revisión de la literatura con especial énfasis en la patogenia, manifestaciones clínicas y tratamiento.

Poland syndrome with intracranial germ cell tumor in a child.

Poland syndrome is an uncommon unilateral deformity of chest wall and upper extremity with variable manifestations. Although numerous case reports of Poland syndrome associated with malignancies have been published, intracranial germ cell tumor in Poland syndrome has not been previously reported. The authors describe a 15-year-old male patient with intracranial germ cell tumor and Poland syndrome.

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: report of a variant.

Poland's syndrome is a rare congenital anomaly consisting of unilateral partial or total absence of a breast and/or pectoralis major muscle, and ipsilateral symbrachydactyly. Many structural and functional abnormalities have been described in association with the syndrome. However, only a few hemostatic disorders have been reported. The case of a 12-year-old secondary school girl with unilateral hypoplasia of the breast, absence of anterior axillary fold and absence of the pectoralis major muscle is hereby presented. She also had thrombocytopenia and several episodes of spontaneous bleeding from the ipsilateral anterior chest wall. She did well on medical treatment, with no recurrence of bleeding 10 months after treatment. The author is not aware of any previously reported case of Poland's syndrome associated with bleeding disorder in Africa. This case is presented to alert clinicians of its existence and possible association with hematological disorders.

Poland syndrome in a neonate: report of one case.

Poland syndrome is an infrequent disease that presents in newborn infants and features an incidence of about one in 7,000 to one in 100,000 live births. The clinical features include an absence of the costosternal portion of the pectoralis major muscle, hypoplasia and/or aplasia of the ipsilateral breast or nipple, hypoplasia of subcutaneous tissue, abnormalities of the rib cage and upper extremity anomalies. We present a male newborn suffering Poland syndrome who featured a depressed left chest wall with respiratory distress. Ultrasonography of the chest revealed the absence of a section of pectoralis major muscle over the left chest wall, although no abnormality was found over the ipsilateral upper extremity. The patient was regularly followed up and showed no limitation to the range of motion of the left upper extremity at the age of four months.