Analysis of the gross anatomical variations found in four cases of trisomy 13.
The variations and defects observed during detailed gross anatomical dissections of four cases of trisomy 13 are described. Emphasis is on the muscular system where previously undocumented variations, absences, and supernumerary elements were observed. A muscle phenotype which includes absence of palmaris longus, palmaris brevis, plantaris, and peroneus tertius, the presence of pectorodorsalis muscles and muscles from the central tendon of the diaphragm to the pericardium near the pulmonary veins, and variations in the extensor indicis, extensor carpi radialis longus and brevis, biceps, and suprahyoid muscles is discussed. The brain defects which include absent olfactory bulbs and tracts and hypoplastic commissures are compared to those defects seen in cases of alobar holoprosencephaly wherein severe defects of the ethmoid bone are concomitants. Previously well-documented defects of the viscera are included.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000002:abnormalities; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D005124:Eye Abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009132:Muscles / Q000002:abnormalities*; D014314:Trisomy