Biomedical subjects
Publications and source records attributed to P Goddeeris.
A newborn with the typical stigmata of Robinow syndrome is presented. Perinatal death was due to severe anoxemia with diffuse congestion and haemorrhages. In contrast with the severe genital hypoplasia in the majority of the reported patients the genital development was normal.
We recently described a new lethal malformation syndrome, characterized by typical craniofacial dysmorphism, cleft soft palate, distal limb hypoplasia and diaphragmatic defects. We here report an additional case, which tends to confirm that this syndrome represents a distinct entity among the lethal malformation syndromes.
Two female sibs are reported with a possibly new lethal malformation pattern, the major anomalies of which are: coarse face with small eyes and cloudy corneae, cleft soft palate, hypoplasia and absence of lobulation of both lungs, diaphragmatic defects, digitalisation of thumbs and distal limb deformities.
Computed tomography (CT) visualization of both adrenal glands was possible in 99 of 100 cases using a fast (2 sec) scanner. Previously reported CT variants of normal adrenal glands correlated well with transverse sections of 20 autopsy specimens.
A female newborn with full triploidy and multiple malformations, who survived for 2 months, is presented. In all examined lymphocytes and fibroblasts a 69,XXX karyotype was found. Banding studies showed the presence of one 9qh in the mother and two 9qh chromosomes in the child, indicating that the triploidy arose from the failure to expel the second polar body.
A female newborn with multiple malformations and with full monosomy 21 is described. Clinical resemblance to the three cases described in the literature is striking.
Two cases of familial centronuclear myopathy are described. Both presented features of 'cardiomyopathy and one had signs of slight congenital aortic stenosis. The 'cardiomyopathy' was fatal in one case. The clinical histological, and necropsy findings are presented and discussed.
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