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A Wide Spectrum of Axial Mesodermal Dysplasia Complex With Rhombencephalic Anomaly: A Case Report
Kang-Won Kim1, Jeoung-Hwan Seo1, Myoung-Hwan Ko1
1Department of Physical Medicine and Rehabilitation, Chonbuk National University Medical School, Jeonju, Korea.
Insights
Axial mesodermal dysplasia complex (AMDC) can present with diverse musculoskeletal and central nervous system issues. This case highlights a rare combination, emphasizing the need for comprehensive imaging in AMDC diagnosis.
Area of Science:
- Medical Genetics
- Developmental Biology
- Neurology
Background:
- Axial mesodermal dysplasia complex (AMDC) involves craniocaudal anomalies.
- Reported AMDC cases typically feature musculoskeletal deformities or neuroschisis.
- The co-occurrence of AMDC with specific neurological and musculoskeletal anomalies is rare.
Purpose of the Study:
- To report a unique case of Axial Mesodermal Dysplasia Complex.
- To describe the co-existence of AMDC with specific musculoskeletal and neurological findings.
- To emphasize the importance of comprehensive diagnostic approaches in AMDC.
Main Methods:
- Case report of a 4-year-old boy.
- Clinical examination including neurological assessment.
- Radiological studies (imaging) for diagnosis.
Main Results:
- The patient presented with features suggestive of Goldenhar and Poland syndromes, Sprengel deformity, and mirror movements.
- Diagnosed with medullary neuroschisis and Klippel-Feil syndrome with rib anomalies.
- Demonstrated left-sided facial nerve palsy, contralateral to Goldenhar syndrome anomalies.
Conclusions:
- Axial mesodermal dysplasia complex can manifest with a broad spectrum of musculoskeletal defects.
- Variable central nervous system malformations can accompany AMDC.
- Imaging studies are crucial for diagnosing AMDC and its associated anomalies.
Abstract:
Axial mesodermal dysplasia complex (AMDC) arises in variable combinations of craniocaudal anomalies such as musculoskeletal deformities, neuroschisis, or rhombencephalic developmental disorders. To the best of our knowledge, the co-existence of AMDC with associated musculoskeletal anomalies, medullary neuroschisis with mirror movements, and cranial nerve anomalies has not yet been reported. Here, we report the case of a 4-year-old boy whose clinical features were suggestive of Goldenhar syndrome and Poland syndrome with Sprengel deformity. Moreover, he showed mirror movements in his hands suspected of rhombencephalic malformation, and infranuclear-type facial nerve palsy of the left side of his face, the opposite side to the facial anomalies of Goldenhar syndrome. After conducting radiological studies, he was diagnosed with medullary neuroschisis without pontine malformations and Klippel-Feil syndrome with rib anomalies. Based on these findings, we propose that clinical AMDC can be accompanied by a wide variety of musculoskeletal defects and variable degrees of central nervous system malformations. Therefore, in addition to detailed physical and neurological examinations, imaging studies should be considered in AMDC.
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