Craniofacial Abnormalities
What You Need to Know
- 婴儿的头骨由一块块骨头组成，骨头被称为缝合线的柔软区域隔开. In the first six to 18 months of life, the sutures close (fuse) and the skull becomes one piece.
- Craniofacial malformations, including craniosynostosis是由于婴儿的头骨或面部骨骼太早或以不正常的方式融合在一起造成的.
- When the bones fuse together too early, 大脑在成长过程中可能会受损，无法正常扩张, and the infant may develop neurological problems.
- 手术可能是必要的，以修改脸部和颅骨的轮廓, and provide room for the baby’s growing brain.
Symptoms of Craniofacial Abnormalities
Craniofacial malformations can be mild or severe, and depend on what parts of the infant’s skull are affected. Certain groups of signs and symptoms are known as syndromes, and there are several that result in telltale facial anomalies:
Apert syndrome颅面畸形以头部形状异常为特征的颅面畸形, small upper jaw, and fusion of the fingers and toes.
Brachycephaly一种先天缺陷，其特征是头部不成比例地短. It is caused by a premature fusing of the coronal suture. 短头症通常与许多综合征有关, such as Apert, Crouzon, Pfeiffer, Saethre-Chotzen and Carpenter.
Crouzon syndrome以颅骨和面部骨骼畸形为特征的先天缺陷, caused by a fusing of both sides of the coronal suture. 这种综合征通常会导致颅骨前部和后部变短. 颧骨扁平和鼻子扁平也是这种疾病的典型症状.
Encephalocele突出症:以大脑或其覆盖物通过颅骨突出为特征的一种状况.
Kleeblattschadel syndrome一种非常罕见的先天缺陷，以颅骨和面部骨骼的畸形为特征. 它是由几乎所有的纤维缝合线过早融合引起的. It is also called cloverleaf skull.
Oxycephaly以颅骨和面部骨骼畸形为特征的先天缺陷. 这种综合征导致颅骨顶部呈尖状或锥形. 它是由冠状和矢状缝合线过早融合引起的. It is also known as turricephaly or high-head syndrome.
Pfeiffer syndrome畸形一种以颅骨、手和脚畸形为特征的先天缺陷. This syndrome results in wide-set, bulging eyes, an underdeveloped upper jaw, 还有因为头部不能正常生长而导致的鹰嘴鼻.
Pierre Robin syndrome面部畸形一种以面部骨骼畸形为特征的先天缺陷, resulting in a smaller-than-normal lower jaw or receding chin. 舌头经常会陷在喉咙里，导致呼吸困难.
Plagiocephaly:婴儿一侧或后脑勺的持续性扁平斑点，这是由于大部分时间保持同一睡姿造成的. 这是一个非常普遍的问题，在美国大约有十分之一的婴儿受到影响.S. Most infants show improvement with repositioning and exercises. 有时，斜头畸形可以在出生前开始，在双胞胎中更常见.
Saethre-Chotzen syndrome一种先天缺陷，其特征是头部异常短或宽. In addition, the eyes may be spaced wide apart, eyelids may be droopy, and fingers may be abnormally short and webbed.
Scaphocephaly: A long, 由于矢状面缝合的早期融合导致头形狭窄, which runs front to back, down the middle of the top of the head.
Torticollis颈部的扭曲导致头部以奇怪的角度旋转和倾斜. 它通常是由颈部肌肉紧绷引起的. Torticollis often responds very well to neck exercises. It is also known as wry neck.
Trigonocephaly颅骨三角形:由于额骨的两半在异位缝合线处过早融合而形成的颅骨三角形, which extends down the middle of the forehead toward the nose.
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Diagnosis of Craniofacial Abnormalities
Some of these syndromes are apparent at birth, 而其他的在婴儿头几个月头变大之前并不明显. 大多数情况下，你的医生可以通过检查来识别颅面异常. 用仪器检查孩子的头骨、大脑和面部结构 MRI or CT scan can help clarify the diagnosis.
Babies’ heads grow rapidly the first year of life, 这就是为什么婴儿早期是这些疾病可能被诊断并需要治疗的时候. 你的儿科医生可能会建议观察几周或几个月，看看你孩子的病情是否会进展. You may be referred to a neurosurgeon, 谁能和你一起为你的孩子制定最合适的治疗计划.
Treatment for Craniofacial Abnormalities
Craniofacial Surgery
For true craniosynostosis and other syndromes, 你的医生可能会建议手术来矫正颅骨和面部骨骼的物理形成, and maximize functionality for your child.
These surgeries can be complex and intensive, requiring removal, reshaping and replacing parts of the skull. 小儿神经外科医生可能与小儿颅面整形外科医生合作，以确保最佳效果.
Skull reconstruction may involve the surgeons using sutures, wires, 在孩子成长过程中，固定骨骼和保护大脑的小螺丝钉或钢板. These materials are often too small to be felt under the skin.
Minimally Invasive Surgery
In some cases, 如果你的孩子在三个月大之前被诊断出异常, 外科团队可以使用几种微创手术中的一种. 与开放手术相比，这些内窥镜方法可以降低输血和并发症的风险, and can also mean faster recovery for your child.
微创手术后可采用头盔治疗, 在这个过程中，你的孩子戴上一个特殊的头盔，轻轻地引导正在生长的头骨进入合适的位置，这样它们就能更正常地融合.
Consult a specialist as soon as possible
无论如何，时间是至关重要的，因为婴儿的大脑发育得很快. 与专家的及时评估是必不可少的，以确保您的孩子有全面的治疗方法.
