Kuna G B, Collipp P J, Balsam D
Clin Pediatr (Phila). 1978 Jan;17(1):96-8. doi: 10.1177/000992287801700114.
This rare syndrome is characterized by short stature, sparse, fine scalp hair, a pear-shaped nose, long philtrum, normal intelligence, and cone-shaped epiphyses of the phalanges with deformities of the fingers.
这种罕见综合征的特征为身材矮小、头皮毛发稀疏纤细、梨形鼻、人中长、智力正常以及指骨骨骺呈锥形并伴有手指畸形。