Microcephaly Cervical Spine Fusion Anomalies

Last update 08 May 2025

Basic Info

Synonyms

MICROCEPHALY WITH CERVICAL SPINE FUSION ANOMALIES, Microcephalus co-occurrent with cervical spine fusion anomaly, Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)

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Introduction

A very rare disorder, features include microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression.

Clinical Trials associated with Microcephaly Cervical Spine Fusion Anomalies

NCT06117267

/ Not yet recruitingNot ApplicableIIT

A Single-arm, Single-center Clinical Study to Verify the Navigation Image Accuracy in Cervical Spine Surgery Using Anatase Spine Surgery Navigation System

The "Anatase" Spine Surgery Navigation System used in this study has obtained market approval in Taiwan(MOHW-MD-No.006663) and the United States (510(k) Numbers: K180523 and K220348).
The "Anatase" Spine Surgery Navigation System, also known as an Image Guide System, is indicated for precise positioning of surgical instruments or spinal implants, such as pedicle screw placement, during general spinal surgery. The system uses wireless optical tracking technology to track the position of instruments in relation to the surgical anatomy and register to the relative position in preoperative 3D CT imagery.
The aim of the study is to verify the accuracy of "Anatase" Spine Surgery Navigation System in Image-guided Cervical Spine Surgery. This trial will involve 8 subjects using the approved "Anatase" Spine Surgery Navigation System to collect images before screw implantation, and verify the accuracy of navigation images in cervical spine surgery.

Start Date01 Nov 2023

Sponsor / Collaborator

China Medical University Hospital

100 Clinical Results associated with Microcephaly Cervical Spine Fusion Anomalies

100 Translational Medicine associated with Microcephaly Cervical Spine Fusion Anomalies

0 Patents (Medical) associated with Microcephaly Cervical Spine Fusion Anomalies

Literatures (Medical) associated with Microcephaly Cervical Spine Fusion Anomalies

01 Dec 2025·Child's Nervous System

Cervical spine considerations in Goldenhar syndrome: a clinical perspective

Article

Author: Jacob, Gregg A ; Mazzola, Catherine A ; Gadiraju, Sumana

BACKGROUNDGoldenhar syndrome is a clinically heterogeneous disorder defined by a rare combination of congenital anomalies-an eye abnormality, in addition to two of the following three: ear anomalies, mandibular malformations, and vertebral defects. Notably, children with Goldenhar syndrome present with a high incidence of cervical spine malformations.CLINICAL CASEIn this report, we present an unusual case of a 15-year-old child with Goldenhar syndrome, who additionally presents with some clinical features of VACTERL syndrome. The patient was scheduled for mandibular distraction surgery with oral maxillofacial surgery. It was noted on pre-operative three-dimensional computed tomography (3D CT) that there was mild basilar invagination and stenosis of the foramen magnum. A magnetic resonance imaging (MRI) study was recommended and showed cervicomedullary compression, for which a suboccipital craniectomy and C1 laminectomy were performed.CONCLUSIONConsidering the cervical spine anomalies in Goldenhar syndrome, we describe precautions to manage the risk of cervical spinal cord injury during general anesthesia, including pre-operative evaluation for cervical spine compression and/or instability and minimizing neck movement during intubation. For the latter, we recommend a controlled, neutral neck position during intubation, operation, and recovery.

01 Dec 2024·The Laryngoscope

Fibula Free Flap Reconstruction of Cervical Spine Defects: A Multi‐Institutional Study

Article

Author: Wax, Mark K. ; Richmon, Jeremy D. ; Coughlin, Andrew ; Bewley, Arnaud F. ; Colcord, Maddie ; Wright, James ; Winters, Ryan ; Moore, Eric J. ; Pipkorn, Patrik ; Yang, Sara ; Morton, Zoey ; Khariwala, Samir S. ; Zender, Chad A. ; Jackson, Ryan S. ; Militsakh, Oleg N. ; Thuener, Jason

IntroductionCervical spine defects result in spinal instability, putting the spinal cord and vertebral arteries at risk of damage and possibly devastating neurological injuries. The fibula free flap can span the spinal defects for stability. There is a paucity of literature on this technique.MethodMulti‐institutional retrospective case series reviewing patients who underwent cervical spine reconstruction with a fibula free flap. Patient demographic information, comorbidities, characteristics of cervical spine defects, and free flap complications were collected.ResultsA total of 1187 fibula free flaps across 10 different institutions were reviewed. Thirteen patients (1.09%) underwent cervical spine reconstruction with a fibula free flap. Average age was 52.3 years old with an age range of 12–79 years. There were six males (46.1%) and seven females (53.8%). The most common defect etiology was infection (n = 6, 46.1%). Most commonly involved cervical spine level of the defect was C5 (n = 10) followed by C6 (n = 9) and C4 (n = 8). The majority of reconstructed defects spanned three or more cervical levels, (n = 9, 69.2%). Facial artery was the most common arterial anastomosis (n = 8). Eight patients (61.5%) required a tracheostomy during their postoperative course. None of the patients had symptomatic or radiographic nonunion.ConclusionThis case series demonstrates that a vascularized fibula flap is a potential reconstructive option for cervical spine defects, especially in defects greater than three cervical levels, in the setting of infection, and previously radiated patients.Level of Evidence4 Laryngoscope, 134:4923–4928, 2024

18 Dec 2021·Cureus

Management of Cervical Kyphotic Deformity Associated With Loeys-Dietz Vasculopathy and Cardiac Transplantation: Case Report, Literature Review, and Strategies for Complex Skeletal Dysplasias

Author: Singer, Timothy G ; Bauer, David F ; Lazaro, Tyler ; Donoho, Daniel A

Seventy-six percent of pediatric patients with Loeys-Dietz syndrome (LDS), a connective tissue disorder driven by a transforming growth factor-beta (TGF-B) pathway mutation, manifest cervical spine malformations. A prior series showed that 16% required surgical stabilization. Spine surgery in LDS is associated with an 88% complication rate due to poor bone quality and cerebrovascular ectasia. Of 77 patients with LDS, one patient who required spine surgery was identified in an institutional database from 2010 to 2020. A 15-year-old with LDS presented with symptomatic cervical myelopathy from a rapidly progressive and unstable cervical deformity. We performed a C5-6 corpectomy and an O-T2 posterior spinal fusion with recombinant human bone morphogenetic protein-2 (rhBMP-2). We achieved correction of her kyphosis and normalization of her neurologic status. She is neurologically well one year postoperatively with bony fusion. The management of a pediatric patient with LDS, orthotopic heart transplantation (OHT), and craniocervical deformity with instability is a novel challenge. Long-segment constructs are beneficial, rather than sparing the occiput or cervicothoracic junction. Off-label BMP may aid an LDS patient with TGF-B mutation and sternotomy. Surgeons should continue immunomodulatory and antiplatelet medications when required for OHT.

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