Cantú J M, García-Cruz D, Sánchez-Corona J, Fragoso R, Hernández A, Nazará-Cazorla Z
Am J Dis Child. 1981 Oct;135(10):905-8. doi: 10.1001/archpedi.1981.02130340017007.
Three sisters with 3-M slender-boned nanism are described. The main features were low birth weight, disproportionate dwarfism, large head for height, triangular-shaped face with wide anteverted nostrils, long philtrum and full lips, short neck, elbow malformation, pes planus with prominent heels, slender bones with thin diaphyses, small pelvis, and mild mental deficiency. Comparative analysis with the eight other cases reported in the literature permits further clinical delineation and the corroboration of autosomal recessive inheritance.
本文描述了三例患有3-M型细骨侏儒症的姐妹。主要特征包括低出生体重、不成比例的侏儒症、相对于身高而言的大头、面部呈三角形且鼻孔宽大前倾、人中长且嘴唇丰满、颈部短、肘部畸形、扁平足且足跟突出、骨骼细长且骨干细、骨盆小以及轻度智力缺陷。与文献中报道的其他八例病例进行比较分析,有助于进一步明确临床特征并证实常染色体隐性遗传。