Reinforcing the vascular disruption theory of the genesis of Poland's syndrome: a rare association of diaphragmatic eventration in a preterm infant with severe musculoskeletal defects.

A preterm female infant was admitted at birth with respiratory distress. On examination, she had an asymmetric right chest wall and ipsilateral small hand. Air entry was reduced over the right chest. A clinical diagnosis of Poland's syndrome was made based on the hypoplasia of the right pectoral muscles, absent nipple, deformed ribs and symbrachydactyly of the ipsilateral hand. Chest X-ray suggested and ultrasound confirmed eventration of the right hemidiaphragm. 'Subclavian artery supply disruption sequence' (SASDS) theory by Bavnick and Weaver remains the most accepted pathogenic mechanism in Poland's syndrome. This case reinforces SASDS theory associated with the genesis of Poland's syndrome that relates to the pathogenicity of vascular disruption of subclavian artery, characteristics of which are unilateral pectoral defects, symbrachydactyly and eventration of the diaphragm. At 2 months, she underwent diaphragm plication. She is under review by our multidisciplinary surgical team for reconstruction of the chest deformity.

Poland syndrome: from embryological basis to plastic surgery.

Poland syndrome is a rare congenital anomaly described by Sir Alfred Poland over 170 years ago. Combination of unilateral aplasia of the sternocostal head of musculus pectoralis major, and an ipsilateral hypoplastic hand with simple syndactyly and short fingers is typical for this condition. It occurs more frequent among males, and is usually situated on the right hemithorax in the unilateral form. The pathogenesis of Poland syndrome is not clear. Most of the authors assume that the etiologic insult is vascular in nature. During the sixth week of gestation, not only the pectoral mass splits (future muscles of the thorax) and intervening tissue between the finger rays of hands starts to disappear but also the vascular differentiation from six aortic arches begins. In our paper we report two cases of children with Poland syndrome, who underwent surgical procedure in the Department of Pediatric Surgery, Comenius University in Bratislava, Slovakia. Our case reports are focused on pre-operatively and also post-operatively imaging (RTG, CT, and 3D CT imaging) of the affected thorax and arm, as well as the operative reconstruction technique of abnormal ribs. We also discussed the possible embryonic backgrounds of this anomaly as well as the importance of plastic surgery resulting in patients' normal life.

Asociación sindromática: Poland, Goldenhar, Moebius, Klippel-Feil: presentación de un caso clínico / Poland, Goldenhar, Moebius, Klippel-Feil syndrome: a clinical case

Poland Syndrome is a congenital defect characterized by a unilateral absence of the clavicular and stem costal portion of the pectoral muscles associated to abnormalities of other muscles of the thoracic wall, ribs, breast and upper extremity. It is found in one of 20 to 32 thousand newborns. It is found sometimes associated to other syndromes, most often with Moebius Syndrome, and rarely with Goldenhar and Klippel-Feil. Due to the association, a common pathogenic cause has been postulated, that being an anomaly of vascularization during embryonic development. Clinical Case: A newborn male was seen who presented with Poland, Goldenhar, Moebius and Klippel-Feil Syndromes. Clinically, he presented left hemi facial microsomy, microtia, shortening and paralysis of the facial nerve; his neck was short and movement was limited due to C4-C5 fusion; agenesis of left pectorals, hypoplasia of left radius and hand. There were no known additional family cases, being thus, a sporadic syndromatic association.

Introducción: El síndrome de Poland es un defecto muscular congénito, heterogéneo, caracterizado por ausencia unilateral de las porciones clavicular y/o esternocostal del músculo pectoral mayor, que se puede asociar a compromiso de otros músculos de la pared torácica, costillas, mama y extremidad superior. Se presenta con una frecuencia entre 1/20 000 al/32 000 nacidos. El síndrome de Poland se presenta en algunas ocasiones asociado a otros síndromes, siendo clásica con el síndrome de Moebius. Excepcionalmente se ha descrito la aparición conjunta con otros síndromes como Goldenhar y Klippel-Feil. Por la relación que existe entre ellos se plantea una patogenia común: anomalía en la vascularización, durante el desarrollo embrionario. Caso Clínico: Paciente de sexo masculino, con asociación sindromática de Poland, Goldenhar, Moebius y Klippel-Feil. Como características clínicas presenta a izquierda microsomia hemifacial, microtia, acortamiento de rama mandibular y parálisis facial; cuello corto y limitación de movimientos por fusión de C4-C5; agenesia del pectoral mayor izquierdo, hipoplasia de radio y mano izquierda. Sin antecedentes familiares, se trataría de un caso esporádico de asociación sindromática.

Radiological aspects of the Poland syndrome and implications for treatment: a case study and review.

UNLABELLED: Poland syndrome (PS) (OMIM 173800) is a rare congenital anomaly classically consisting of the combination of unilateral aplasia of the sternocostal head of the major pectoral muscle and an ipsilateral hypoplastic hand with simple syndactyly and short fingers. The aetiology is most probably a vascular disruption sequence of the subclavian arteries. In most cases, PS is sporadic. Familial occurrence suggests that genes exist which are involved in the pathogenesis as paradominant traits. The syndrome may include mammary hypoplasia and further muscle abnormalities which can be accurately defined by sonography and MRI. The evaluation of the vascular status can be performed using colour coded duplex sonography for peripheral arteries and contrast-enhanced MR-angiography for supra-aortic arteries. CONCLUSION: We report a 7-year-old girl with unilateral right sided Poland syndrome with particular emphasis on the radiological investigations of vascular abnormalities. A review of the literature concerning the origin, outcome, and implications for treatment is given.

Möbius sequence: further in vivo support for the subclavian artery supply disruption sequence.

Möbius sequence consists of a congenital bilateral facial nerve palsy and external ophthalmoplegia often associated with malformations of the limbs and orofacial structures. The pathogenesis of the sequence is a subject of debate. However, a new hypothesis proposes that Möbius sequence results from an interruption of embryonic blood supply (subclavian artery supply disruption sequence). Here we present an infant with bilateral facial nerve palsy (VII), external ophthalmoplegia (IV, VI), paresis of cranial nerves V, IX, X, XI, and XII, absence of the pectoralis major muscle (Poland anomaly), terminal transverse limb defects, and absence of the right diaphragm. Also, he was found to have discrete foci of brainstem calcifications in the region of the dorsal respiratory group on both CT scan and the histologic sections with microscopic evidence of diffuse brainstem "injury." The anomalies and histopathology noted in this infant imply that vascular insufficiency prior to the sixth week of gestation involving the proximal sixth intersegmental artery may result in the manifestations presented in this report and lend further support for the existence of a subclavian artery supply disruption sequence.

Poland anomaly with a limb body wall disruption defect: case report and review.

We describe a female infant with apparent Poland anomaly (PA) and limb body wall defect. Analysis of the defects suggest that a disruption of the lateral embryonic plate mesoderm may have been responsible for the observed lesions. Because of the overlap of this case with PA, we re-examined previous reports of this syndrome. We think that the lesions could be equally well explained as a mesodermal disruption, and point out a previously unrecognised discrepancy between sex and affected side in sporadic PA and inherited PA which supports this view.

[Complete and dissociated forms of Poland's syndrome (5 cases)]. / Formes complètes et formes dissociées du syndrome de Poland (5 cas).

The authors report 5 cases of aplasia of pectoralis major including 2 associated with a malformation of the hand falling within the context of Poland syndrome, which is a relatively common congenital malformation consisting of an association in varying degrees of hypoplasia of pectoralis major and a complex malformation of the homolateral hand. The pathogenesis of this malformation is gradually emerging and while familial cases have been reported, the majority of Poland syndromes are sporadic. The hypothesis involving interruption of the embryonic blood supply of the subclavian arteries during a critical period of embryonic development at about the 46th day is the most attractive. This hypothesis also enables extension of the manifestations seen to other congenital malformation syndromes. However, it could be disproved in one of our cases and the notion of early embryonic damage was more plausible.

Síndrome de Poland: estudio descriptivo

El presente es un trabajo descriptivo acerca de 19 pacientes diagnósticados como Síndrome de Poland en el Consultorio de Genética del INSN. Se realizarón visitas domicilarias a 6 pacientes. El cuadro clínico es muy variable, desde ausencia aislada de músculo pectoral mayor hasta asociadas a defectos en : miembro superior, mama, arcos costales, etc. Todos pisilaterales y otras como alteraciones en cintura escapsular posterior, Síndrome de Moebius, dextrocardia, etc. Estas se presentaron más comunmente en varones sin preferencia por ningún lado. La etiología es aún desconocida; pero puede explicarse por la hipótesis vascular llamada secuencia de disrupción del flujo de la arteria subclavia. Los datos obtenidos acerca de los factores de riesgo son insuficientes para obtener conclusiones; pero se reportan en los antecedentes maternos prenatales consumo de anticonceptivos orales, hemorragia del, primer trimestre y embarazo no deseado. La evolución de los pacientes es compatible con una vida normal, con las limitaciones propias de las malformaciones. Su pronóstico es bueno y se considera como una condición esporádica con un riesgo extremadamente bajo de recurrencia familiar

[Poland's syndrome. Presentation of a case of probable vascular origin]. / La sindrome di Poland. Presentazione di un caso a probabile origine vascolare.

A new case of Poland syndrome in a male newborn is described. The infant shows typical anomalies of the right hand and ipsilateral pectoral muscle agenesis. The arterial pressure is lower when measured at the affected limb than at the contralateral, suggesting that a vascular pathogenesis could be involved.

Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies.

A hypothesis is presented to explain the pathogenesis of the Poland, Klippel-Feil, and Möbius anomalies, isolated absence of the pectoralis major with breast hypoplasia, isolated terminal transverse limb defects, and the Sprengel anomaly. We propose that these conditions are the result of an interruption of the early embryonic blood supply in the subclavian arteries, the vertebral arteries and/or their branches, and hypothesize that the occlusions occur at specific locations in these vessels during or around the sixth week of embryologic development and produce predictable patterns of defects. The term subclavian artery supply disruption sequence (SASDS) is suggested for the group of birth defects represented by the above conditions. Possible causes for interruption of embryonic blood supply are discussed.