Haga Nobuhiko
Department of Pediatric Orthopedics, Shizuoka Children's Hospital, 860 Urushiyama, Shizuoka 420-8660, Japan.
J Orthop Sci. 2004;9(1):103-7. doi: 10.1007/s00776-003-0729-4.
Achondroplasia is a skeletal dysplasia that manifests as short stature. Impairment and complications range over many disciplines including orthopedics, pediatrics, neurology, and otolaryngology. The major impairments of the extremities are short limbs, limited elbow and hip extension, and knee and leg deformities that can cause disabilities in arm function and locomotion. Hydrocephalus, a narrow foramen magnum, spinal deformity, and spinal canal stenosis can cause neurological problems, leading to disabilities in locomotion, communication, and learning. Malfunctions of the otolaryngeal system such as otitis media, upper respiratory obstruction, deafness, speech delay, and malocclusion are interrelated and can also lead to disabilities in communication and learning. Although such disabilities may cause social handicaps, most children receive a normal education. Their social maturity scale is comparable to that of normal children, but their scale of locomotion is not. The reported occupational level of female adult patients is lower than that of their unaffected siblings. When managing patients, orthopedists should consider the overall aspects of achondroplasia, including natural development and complications other than orthopedic factors.
软骨发育不全是一种表现为身材矮小的骨骼发育异常。其损伤和并发症涉及多个学科,包括骨科、儿科、神经科和耳鼻喉科。四肢的主要损伤包括肢体短小、肘部和髋部伸展受限,以及膝部和腿部畸形,这些可能导致手臂功能和运动能力丧失。脑积水、枕骨大孔狭窄、脊柱畸形和椎管狭窄可引起神经问题,导致运动、沟通和学习能力丧失。耳鼻喉系统功能障碍,如中耳炎、上呼吸道梗阻、耳聋、语言发育迟缓及错牙合畸形等相互关联,也可导致沟通和学习能力丧失。虽然这些残疾可能会造成社会障碍,但大多数儿童接受正常教育。他们的社会成熟度与正常儿童相当,但运动能力则不然。据报道,成年女性患者的职业水平低于其未受影响的兄弟姐妹。在治疗患者时,骨科医生应考虑软骨发育不全的整体情况,包括自然发育过程以及骨科因素以外的并发症。