ABSTRACT
Congenital absence of the left pericardium (allowing communication between pericardial and pleural cavities) is a rare developmental defect that results from faulty partitioning of the pleuropericardic cavity during the 5th week of development. It occurs sporadically in most instances, and may be associated with other malformations of the thoracic viscera. We report here two sibs born to consanguineous parents with absent left fibrous pericardium and developmental defects of the septum transversum: left posterolateral diaphragmatic hernia in one child, left diaphragmatic eventration in the other sib. This appears to be the first familial report of this rare association.
Subject(s)
Hernia, Diaphragmatic/diagnosis , Pericardium/abnormalities , Adolescent , Congenital Abnormalities/diagnosis , Consanguinity , Diaphragm/abnormalities , Family Health , Fatal Outcome , Female , Hernia, Diaphragmatic/etiology , Humans , Hypertension, Pulmonary/mortality , Hypoxia , Infant , Male , SiblingsABSTRACT
The aim of this study was to specify the early setting of the particular craniofacial morphology in Down syndrome during the fetal period from data based on postmortem examinations. The study included 1277 fetuses at 15-38 gestational weeks (GW): 922 control fetuses and 355 fetuses with trisomy 21, selected from fetopathology units in Paris. Body weight (BW) and nine dimensions of the face, skull, and brain were recorded: the outer and inner canthal distances (OCD, ICD), biparietal diameter (BPD), head circumference (HC), brain weight (BrW), occipitofrontal diameters of left and right hemispheres (lOFD, rOFD), weight of the infratentorial part of the brain (IBW), and maximal transversal diameter of the cerebellum (CTD). Four ratios were computed: BPD/HC, OCD/BPD, BrW/BW, IBW/BrW. Differences between trisomic fetuses and control fetuses were tested by age interval. Results showed that BW, rOFD, and lOFD were lower in trisomic fetuses as early as 15 GW. Cerebellar hypoplasia included lower IBW and CTD in trisomic fetuses. The IBW/BrW ratio was higher in trisomic fetuses, showing that growth restriction affected the infratentorial part of the brain less than the supratentorial part. Early brachycephaly was found in trisomic fetuses, with higher values of BPD and BPD/HC from 15 GW. ICD and OCD were not significantly different in the two groups, but OCD/DBP ratio was lower in trisomic fetuses. These results confirm the early phenotypical expression of trisomy 21 on craniofacial morphology, associated with a marked restriction of brain growth, especially in the supratentorial part.
