id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_f42m3gjrnffjtor2kmby3hfsge	A Verloes	Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia	1990.0	4	.pdf	application/pdf	1935	460	84	'true' cartilage-hair hypoplasia among non-Amish necks, under the name 'forme partielle de la dysostose metaphysaire'.' Two cases had fine, sparse hair described two years later by McKusick as 'cartilagehair hypoplasia' (CHH).2 However, our first three cases (a boy and his two sisters) had perfectly normal hair (fig 1), although their bone dysplasia was exactly bone dysplasia without any clinical hair involvement. Centre for Human Genetics, Liege University, Belgium. Figure 2 Case I at 8'/z years showing dark, thick hair. Figure 3 Case I at 8½12years showing slight metaphyseal severe deformation of the lower femoral metaphyses, A syndrome clinically distinctfrom McKusick cartilage-hair hypoplasia 695 Figure 6 Case 3 at 9years showing normal hair. and had normal hair (fig 6). bones of the hand were short and stubby (fig 8). Figure 8 Case 3 at 9years showing Figure 8 Case 3 at 9years showing McKusick cartilage-hair hypoplasia.3 The major	./cache/work_f42m3gjrnffjtor2kmby3hfsge.pdf	./txt/work_f42m3gjrnffjtor2kmby3hfsge.txt