在威廉姆斯综合征中发生的美托普和沙吉塔斯关突
Sarut Chaisrisawadisuk1, Inthira Khampalikit2, Mark H Moore3
1Division of Plastic Surgery, Department of Surgery, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
The Journal of craniofacial surgery
|May 29, 2023
概括
在患有威廉姆斯综合征 (WS) 的婴儿中,进行骨突手术是可行的. 这份病例报告显示,成功的骨重塑改善了WS患者的全身发育,该患者患有metopic和sagittal头骨突.
科学领域:
- 儿科手术 儿科手术
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
背景情况:
- 头骨突,头骨的过早融合,是威廉姆斯综合征 (WS) 的已知并发症.
- WS患者经常出现复杂的心血管异常,增加了手术风险,特别是在麻醉下,导致保守的管理偏好.
- 这种方法突出了与保守管理的偏差,在WS患者中通过手术解决关突症.
研究的目的:
- 报告一个成功的多学科手术方法,在一个患有威廉姆斯综合征的婴儿骨突.
- 评估手术干预对这一特定患者群体的全球发展的影响.
主要方法:
- 一个12个月大的女婴被诊断出患有威廉姆斯综合征和同时发生的美托皮和沙吉塔尔头骨同位症.
- 采用了一种多学科的团队方法,涉及手术规划和手术重塑手术的执行.
主要成果:
- 这名婴儿成功接受了骨重塑手术.
- 手术后的临床结果显示,患者的整体发育有了显著的改善.
结论:
- 关突症的手术纠正是选择威廉姆斯综合征患者的可行选择.
- 卡尔瓦里亚重塑可以在WS和骨突症的婴儿中显著改善神经发育结果.
更多相关视频
02:42Analysis of Craniomaxillofacial Malformations in Mice Using Three-dimensional Microcomputed Tomography
Published on: January 17, 2025
384
06:35Visualization of Craniofacial Development in the sox10: kaede Transgenic Zebrafish Line Using Time-lapse Confocal Microscopy
Published on: September 30, 2013
12.9K
相关概念视频
Sutures of the Skull
7.1K
The human skull is composed of several bones that come together to protect the brain and support the structures of the face. The junctions where these bones meet are called sutures.
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
7.1K
Cranial Bones: Superior and Posterior View
2.4K
The superior view of the cranium shows the frontal and paired parietal bones.
The frontal bone is the single bone that forms the forehead. At its anterior midline, between the eyebrows, there is a slight depression called the glabella. The frontal bone also forms the supraorbital margin of the orbit. Near the middle of this margin is the supraorbital foramen, the opening that provides passage for a sensory nerve to the forehead. The frontal bone is thickened just above each supraorbital margin,...
The frontal bone is the single bone that forms the forehead. At its anterior midline, between the eyebrows, there is a slight depression called the glabella. The frontal bone also forms the supraorbital margin of the orbit. Near the middle of this margin is the supraorbital foramen, the opening that provides passage for a sensory nerve to the forehead. The frontal bone is thickened just above each supraorbital margin,...
2.4K
Cranial Bones: Lateral View
2.4K
The lateral view of the cranium is dominated by temporal, sphenoid, and ethmoid bones.
The temporal bone forms the lower lateral side of the skull. The temporal bone is subdivided into several regions. The flattened upper portion is the squamous portion of the temporal bone. Below this area and projecting anteriorly is the zygomatic process of the temporal bone, which forms the posterior portion of the zygomatic arch. Posteriorly is the mastoid portion of the temporal bone. Projecting...
The temporal bone forms the lower lateral side of the skull. The temporal bone is subdivided into several regions. The flattened upper portion is the squamous portion of the temporal bone. Below this area and projecting anteriorly is the zygomatic process of the temporal bone, which forms the posterior portion of the zygomatic arch. Posteriorly is the mastoid portion of the temporal bone. Projecting...
2.4K
Pleiotropy
40.7K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.7K
Overview of the Skull
4.8K
The cranium (skull) is the skeletal structure of the head that supports the face and protects the brain. It is subdivided into the facial bones and the brain case, or cranial vault. The facial bones underlie the facial structures, form the nasal cavity, enclose the eyeballs, and support the teeth of the upper and lower jaws.
The cranial vault surrounds and protects the brain and houses the middle and inner ear structures. This cavity is bounded superiorly by the rounded top of the skull, which...
The cranial vault surrounds and protects the brain and houses the middle and inner ear structures. This cavity is bounded superiorly by the rounded top of the skull, which...
4.8K
Cranial and Spinal Meninges
1.6K
The cranial and spinal meninges are complex protective structures surrounding the central nervous system (CNS), consisting of the brain and spinal cord. These meninges consist of the dura mater, the arachnoid mater, and the pia mater. They protect the CNS, provide structural support, and aid in circulating cerebrospinal fluid (CSF).
Cranial Meninges
These meningeal layers cover the cranium. The dura mater is the outermost layer of cranial meninges. It is a thick and durable membrane of dense...
Cranial Meninges
These meningeal layers cover the cranium. The dura mater is the outermost layer of cranial meninges. It is a thick and durable membrane of dense...
1.6K
