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.

Presentation and Treatment of Poland Anomaly.

Background: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral pectoral muscle agenesis and ipsilateral hand deformity. Methods: A comprehensive review of the medical literature on Poland anomaly was performed using a Medline search. Results: Poland anomaly is a sporadic, phenotypically variable congenital condition usually characterized by unilateral, simple syndactyly with ipsilateral limb hypoplasia and pectoralis muscle agenesis. Operative management of syndactyly in Poland anomaly is determined by the severity of hand involvement and the resulting anatomical dysfunction. Syndactyly reconstruction is recommended in all but the mildest cases because most patients with Poland anomaly have notable brachydactyly, and digital separation can improve functional length. Conclusions: Improved understanding the etiology and presentation of Poland anomaly can improve clinician recognition and management of this rare congenital condition.

Secuencia Poland: presentación de casos con recurrencia familiar / Poland sequence: case reports of familial recurrence

La Secuencia Poland es un conjunto raro de defectos congénitos caracterizado por la agenesia total o parcial del músculo pectoral mayor con asociaciones variables de otros defectos a nivel de tórax y extremidades superiores. Se presenta de forma esporádica y mayoritariamente afecta un solo lado. El objetivo fue caracterizar desde el punto de vista clínico la Secuencia Poland presente en dos individuos afectados dentro de una misma familia. Se realizó un estudio descriptivo de tipo reporte de casos. El hallazgo orienta hacia la transmisión familiar de genes de susceptibilidad que participan en el origen de esta entidad bajo la probable acción de factores ambientales que justifican la marcada heterogeneidad clínica del defecto (AU)

Poland sequence is a rare set of congenital defects characterized by total or partial agenesis of the chest muscle (pectoralis major) with varied associations of other defects at the level of thorax and superior limbs. Its presentation is sporadic and most often affects one side of the body. The objective was to characterize Poland sequence in two individuals of the same family from the clinical point of view. A descriptive study of case reports was conducted. The findings lead to a familial transmission of gene susceptibility participating in the origin of this syndrome under the potential actions of environmental factors that justify the marked clinical heterogeneity of this birth defect (AU)

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.

[Chiari type I malformation in a patient with Poland's syndrome]. / Malformación de Chiari tipo I en un paciente con síndrome de Poland

Chiari malformation type I and Poland's syndrome are two rare diseases and their simultaneous presentation had not been previously described in the literature. We report the case of a 27 year old male with history of Poland's syndrome, who referred headache and motor impairment of the intrinsic muscles of the left hand. In a cervical spine MR a Chiari I malformation with syringomyelia from C1 to T2 was found, which was treated by foramen magnum decompression, dural plasty and removal of the posterior arch of the atlas. A discussion of the embryological mechanisms that might be involved in the coexistence of these two entities is presented, emphasizing the role of para-axial mesoderm.

Síndrome de Moebius-Poland: relato de caso e revisão bibliográfica / Moebius-Poland syndrome: case report and literature review

A síndrome de Poland tem etiologia desconhecida, e está relacionada à embriogênese da quinta à oitava semana de gestação, principalmente devido a malformações dos vasos sanguíneos, gerando distúrbios no desenvolvimento osteomuscular. No caso da síndrome de Moebius, cogita-se causa genética ligada ao cromossomo X, utilização de substâncias teratogênicas e abortivas durante a gravidez e diminuição da irrigação sanguínea com isquemia e necrose dos vasos sanguíneos do tronco cerebral, causando deformidades neurofuncionais ao feto. Alguns autores acreditam que as duas síndromes são independentes; outros, que são variações de uma mesma condição. As duas síndromes juntas formam um conjunto de sinais relacionados, como: deformidades ósseas e musculares, hipoplasias, agenesias, paralisias e disfunções dos pares cranianos, acompanhado de deficiência mental e disfunções respiratórias. O caso relatado conta com uma variedade de sintomas que caracterizam essas síndromes

Of unknown etiology, Poland’s syndrome is related to the embryogenesis in the fifth to eighth week of gestation, mainly due to malformations of blood vessels causing disorders in the musculoskeletal development. In the case of Moebius syndrome, possible etiologies include a X-linked chromosomal disorder, use of abortive and teratogenic substances during pregnancy, and decreased blood flow with ischemia and necrosis of blood vessels in the brainstem, causing neurofunctional deformities in the fetus. While some authors believe that the two syndromes are independent, others think that they are variations of the same condition. The two syndromes together form a set of related signals, such as muscle and bone deformities, hypoplasias, agenesis, paralysis and disorders of the cranial nerves, accompanied by mental retardation and respiratory disorders. This case has a variety of symptoms that characterize these syndromes

Poland syndrome with dextrocardia: case report.

Poland syndrome is a rare congenital condition presentingwith typical features including an absent costosternal head of pectoralis major andipsilateral brachysyndactyly. There are many clinical variations of the syndrome including rib defects, absence of shoulder girdle muscle and breast hypoplasia or agenesis. Dextrocardia is rarely associated with Poland Syndrome with only 22 cases being previously reported in the worldwide literature. Whereas 'classical' Poland syndrome is predominantly right sided, all cases associated with dextrocardia have been left sided. We report a further case of left sided Poland syndrome with dextrocardia which might have important implications for the understanding of the pathogenesis of this unusual condition.

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.

Further support for the vascular aetiology of Poland syndrome--a case report.

The aetiology of Poland syndrome remains unclear. It has been postulated that a developmentally normal foetus experiences a destructive process that subsequently results in cascading consequences eventually resulting in its characteristic features. We report the case of a male patient with Poland's anomaly who presented at birth with a large lymphangioma also affecting the right side of his chest. We propose that the pressure exerted by the space occupying lesion during embryological development lends further support to the existence of a subclavian artery supply disruption sequence as the causative insult.

Síndrome de Poland: presentación de un caso / Poland Syndrome: a case report

Se presenta un caso atendido en el consultorio #7 del Policlínico Norte de Ciego de Ávila, de presentación no frecuente. Se trata de un niño de 4 años con asimetría toráxica por ausencia del músculo pectoral mayor derecho, con una depresión en la cara anterior del tórax que se corresponde con la ausencia de la porción cartilaginosa de la V costilla derecha. Se realizaron estudios pertinentes y se arribó al diagnóstico de Síndrome de Poland. Se brinda asesoramiento genético, tratamiento psicológico de apoyo al paciente y a la familia, así como orientación vocacional que ayudará al mejoramiento de la anomalía osteomioarticular.

A case treated in surgery # 7 of North Policlinic in Ciego de Ávila, being of no frequent presentation, is shown. It is about 4 years old boy suffering from thoracic asymmetry with absence of the right major pectoral muscle, with a depression in the anterior thorax face that corresponds with the absence of cartilaginous portion of right gossip V. Pertinent studies were carried out and it was arrived to syndrome of Poland diagnosis. Genetic advice, psychological treatment to support patient and family, as well as vocational guidance are offered, and they will favor the improvement of osteomioarticular anomalies.

Síndrome de Poland: presentación de un caso / Poland Syndrome: a case report

Se presenta un caso atendido en el consultorio #7 del Policlínico Norte de Ciego de Ávila, de presentación no frecuente. Se trata de un niño de 4 años con asimetría toráxica por ausencia del músculo pectoral mayor derecho, con una depresión en la cara anterior del tórax que se corresponde con la ausencia de la porción cartilaginosa de la V costilla derecha. Se realizaron estudios pertinentes y se arribó al diagnóstico de Síndrome de Poland. Se brinda asesoramiento genético, tratamiento psicológico de apoyo al paciente y a la familia, así como orientación vocacional que ayudará al mejoramiento de la anomalía osteomioarticular (AU)

A case treated in surgery # 7 of North Policlinic in Ciego de Ávila, being of no frequent presentation, is shown. It is about 4 years old boy suffering from thoracic asymmetry with absence of the right major pectoral muscle, with a depression in the anterior thorax face that corresponds with the absence of cartilaginous portion of right gossip V. Pertinent studies were carried out and it was arrived to syndrome of Poland diagnosis. Genetic advice, psychological treatment to support patient and family, as well as vocational guidance are offered, and they will favor the improvement of osteomioarticular anomalies (AU)

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)

Dismorfias mamarias en la población pediátrica y adolescente / Pediatric and adolescent breast dysmorphias

El desarrollo de la mama se presenta entre los 8 y los 13 años de edad y es primer signo de desarrollo sexual secundario. La alteración de las características normales de los senos en una adolescente mujer y el crecimiento mamario en los varones deen ser considerados y en consecuencia estudiados. El cirujano plástico pediátrico debe estar entrenado para diagnosticar y tratar este tipo de dismorfias, así como también contener el impacto psicosocial asociado; para ello debe trabajar interdisciplinariamente con psicólogos y pediatras especialistas en crecimiento y desarrollo.

The development of the breast shows up between 8 and 13 years old in the female patient and is the first sign of sexual development. The distortion of the normal characteristics of the breasts in the adolescent female, as well as the mammary growth in the males must be considered and in consequence studied. The plastic pediatric surgeon must be trained in order to diagnose and manage this type dismorfias holding the associated psicosocial impact working interdisciplinaryly with psychologists, pediatricians and pediatric endocrinologists.

Poland syndrome (anomaly) with congenital hemangioma: a new association.

Unilateral defect of pectoral muscle and ipsilateral syndactyly constitute Poland syndrome. Absence or hypoplasia of the breast and nipple, axillary hair loss and dermatoglyphic abnormalities have also been reported in this syndrome. The primary defect could be in the development of the proximal subclavian artery with early deficit of blood flow to the distal limb and the pectoral region, resulting in partial loss of tissue in those regions. However, the association of congenital hemangioma with Poland sequence has not been observed so far. Such an association is being reported here in a 1-year-old infant, second-born of nonconsanguineous parents, who also had polydactyly instead of the documented syndactyly.

Poland-Möbius syndrome and cocaine abuse: a relook at vascular etiology.

This report presents a severe case of Poland-Möbius syndrome with central apnea at birth, ventilator-dependent, and with brainstem calcifications. The newborn had unilateral defect of the right pectoralis muscle, breast, and limb. He manifested bilateral paralysis of the cranial nerves resulting in shallow respiration, apnea, and dysphagia. He finally required tracheostomy and gastrostomy. Maternal history revealed multiple uses of cocaine during the first 3 months of pregnancy. The patient supports the Poland-Möbius combination and the possibility of vascular disruption sequence.

Classification of hand anomalies in Poland's syndrome.

Poland's syndrome classically consists of the combination of unilateral aplasia of the sternocostal head of the pectoralis major muscle and an ipsilateral hypoplastic hand with simple syndactyly and short fingers. However, patients with Poland's syndrome may have a broad range of hand anomalies. In this paper, the author reviews 20 cases of Poland's syndrome and offers a classification of the hand anomalies. The hand anomalies are divided into seven types according to the severity of the deformity. Clinical cases are presented along with similar cases from the literature. The aetiology of Poland's syndrome is discussed and the various malformations that may co-exist with this syndrome are reviewed.