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

No disponible

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.