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.

Congenital diaphragmatic eventration with absent left phrenic nerve in the fetal pig.

We encountered a fetal pig with eventration of the diaphragm and pulmonary hypoplasia accompanied by phrenic nerve agenesis. The fetal pig was female measuring 34 cm in crown-rump length and about 1500 g in body weight. The diaphragm was a complete continuous sheet, but comprised a translucent membrane with residual muscular tissue only at the dorsolateral area of the right leaf of the diaphragm. The left leaf protruded extraordinarily toward the thoracic cavity. The left phrenic nerve was completely absent, while there was a slight remnant of the right phrenic nerve that supplied the dorsolateral muscular area of the right leaf. Both lungs were small, and the number of smaller bronchioles arising from the bronchioles was decreased to about half of that of the normal lung. Additionally, the right and left subclavius muscles and nerves could not be identified. These findings imply that the diaphragm, the subclavius muscle and nerves innervating them comprise a developmental module, which would secondarily affect lung development. It is considered that the present case is analogous to the animal model of congenital eventration of the diaphragm in humans.

Three-dimensional power Doppler (3DPD) ultrasound in the diagnosis and follow-up of fetal vascular anomalies.

OBJECTIVE: This study was undertaken to examine the value of 3-dimensional power Doppler (3DPD) ultrasound imaging in diagnosis and follow-up of fetal vascular anomalies. STUDY DESIGN: In 174 women undergoing early second-trimester targeted organ scanning, followed by a midtrimester second scan in a university hospital setting, 3DPD was applied to the fetal intra-abdominal and intrathoracic vessels. RESULTS: In 137 of 174 fetuses (75%) in the earlier scan, and in 164 of 174 fetuses (95%) in the later scan, 3DPD ultrasound successfully visualized the fetal vessels. In an additional 9 cases, anomalous vascularity was identified: fetal intra-abdominal umbilical vein varix (2), persistent right umbilical vein (1), agenesis of ductus venosus (2), eventration of diaphragm (1), parenchymal and vascular lung anomaly (1), sacrococcygeal teratoma (1), and chorioangioma (1). 3DPD improved diagnostic precision, aided our understanding of anomalous structure, and added information on the vascular volume of lesions in some cases. CONCLUSION: 3DPD improved ultrasound visualization of the fetal vessels of the abdomen and thorax in normal and anomalous cases.

Surgical embryology and anatomy of the diaphragm with surgical applications.

This article reviews the development, surgical anatomy, and teratology of the diaphragm, and discusses the diagnostic procedures, surgical therapy, and prognosis of congenital disturbances. Special attention is paid to the traumatic rupture of the diaphragm, concerning incidence, cause, diagnosis, prognosis, and surgical repair.

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.