Sadeghi-Nejad Ab, Karlin Lawrence I
Division of Pediatric Endocrinology, Tufts University School of Medicine, Floating Hospital for Children at Tufts-New England Medical Center, Boston, Massachusetts 02111, USA.
Am J Med Genet A. 2005 May 1;134(4):443-6. doi: 10.1002/ajmg.a.30655.
We report a young man with intrauterine macrosomia, macrocephaly, and bony abnormalities. Excessive growth continued throughout infancy and childhood. Bone age was advanced. He developed contractures of the large joints and was confined to a wheelchair. Extensive laboratory studies, repeated on multiple occasions were all normal. Intellectually, he was normal. His near final height was 234 cm. The constellation of findings in this patient is at variance with previously described syndromes of tall stature. We postulate that excessive size and bone overgrowth in this young man is caused by a receptor/post-receptor abnormality involving a growth on/off mechanism at the cellular level.
我们报告了一名患有宫内巨大儿、巨头畸形和骨骼异常的年轻男性。过度生长在婴儿期和儿童期持续存在。骨龄提前。他出现了大关节挛缩，只能依靠轮椅行动。多次进行的广泛实验室检查结果均正常。在智力方面，他是正常的。他最终的身高接近234厘米。该患者的一系列表现与先前描述的身材高大综合征不同。我们推测，这名年轻男性的体型过大和骨骼过度生长是由细胞水平上涉及生长开/关机制的受体/受体后异常引起的。
