• Journal of Korean Neurosurgical Society
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• v.29 no.3
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• pp.402-406
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• 2000

The term 'craniovertebral junction' refers to the occipital bone that surrounds the foramen magnum and the atlas and the axis vertebrae. A wide variety of congenital, developmental, and acquired anomalies exist at the craniovertebral junction. The authors present a rare case of the congenital anomaly of the craniovertebral junction consisting of atlantal hypoplasia, atlantal assimilation, and basilar invagination in a 58-year-old male. An occiput-C2 arthrodesis was performed. The clinical and imaging features are described, and the embryology and etiology of this anomaly are discussed.

• Journal of Korean Neurosurgical Society
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• v.64 no.3
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• pp.329-339
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• 2021

It has been recognised for over a century that the events of gastrulation are fundamental in determining, not only the development of the neuraxis but the organisation of the entire primitive embryo. Until recently our understanding of gastrulation was based on detailed histological analysis in animal models and relatively rare human tissue preparations from aborted fetuses. Such studies resulted in a model of gastrulation that neurosurgeons have subsequently used as a means of trying to explain some of the congenital anomalies of caudal spinal cord and vertebral development that present in paediatric neurosurgical practice. Recent advances in developmental biology, in particular cellular biology and molecular genetics have offered new insights into very early development. Understanding the processes that underlie cellular interactions, gene expression and activation/inhibition of signalling pathways has changed the way embryologists view gastrulation and this has led to a shift in emphasis from the 'descriptive and morphological' to the 'mechanistic and functional'. Unfortunately, thus far it has proved difficult to translate this improved knowledge of normal development, typically derived from non-human models, into an understanding of the mechanisms underlying human malformations such as the spinal dysraphisms and anomalies of caudal development. A paediatric neurosurgeons perspective of current concepts in gastrulation is presented along with a critical review of the current hypotheses of human malformations that have been attributed to disorders of this stage of embryogenesis.

• Journal of the korean academy of Pediatric Dentistry
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• v.44 no.1
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• pp.56-63
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• 2017

Delayed eruption of the first molar, without a generalized or localized cause, is usually associated with delayed development of the affected tooth. The aim of this study was to investigate the clinical features of the first permanent molar showing delayed development and eruption, and its association with developmental anomalies of other teeth. Panoramic radiographs of 40 healthy children showing delayed development and eruption of first permanent molars were analyzed. The clinical features of affected first molars and developmental anomalies of other teeth (except third molars) were evaluated. Delayed first molars were more frequent in the maxilla. The incidence of bilateral delayed development of first molars was greater than that of unilateral cases in female patients. In contrast, male patients showed unilateral delayed development of the first molar more frequently. A higher incidence of congenitally missing teeth was observed in patients with delayed first molar. In each case, delayed development or congenital absence was observed in the second molar adjacent to the delayed first molar. Overall, delayed first molar seems to be associated with congenital absence of additional teeth. Understanding the developmental mechanisms of this phenomenon requires further studies.

• Korean Journal of Head & Neck Oncology
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• v.33 no.2
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• pp.49-53
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• 2017

Foregut cystic developmental malformations are rare developmental anomalies. It is important to diagnose the diseases and manage them properly because these cysts may generate feeding or respiratory difficulties depending on the size and location of the lesions. A newborn was referred for a congenital cervical swelling to our clinic on the second day of his life. Neck SONO and MRI showed an about 6cm sized cystic mass at left submandibular area. Aspirations and sclerotherapies were done repeatedly due to recurred cystic mass. Under the suspicious of cystic hygroma, the mass and submandibular gland were excised. Histologically, it was a benign cyst including gastrointestinal and bronchogenic mucosa and pancreatic tissue. Foregut cyst was suggested for the final diagnosis and the patient was discharged at 9 days after the operation without a complication. He has visited our out-patient department. Although several image studies have been introduced to find out foregut cyst, it is difficult to go through differential diagnosis because of similarity of other benign tumor. Further studies for early diagnosis of cervical foregut cyst are needed for preventing possible related problems.

• Journal of Genetic Medicine
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• v.18 no.1
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• pp.31-37
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• 2021

Purpose: To summarize the results of chromosomal microarray analysis (CMA) for copy number variants (CNVs) detection and clinical utility in a single tertiary hospital. Materials and Methods: We performed CMA in 46 patients over the course of two years. Detected CNVs were classified into five categories according to the American College of Medical Genetics and Genomics guidelines and correlated with clinical manifestations. Results: A total of 31 CNVs were detected in 19 patients, with a median CNV number per patient of two CNVs. Among these, 16 CNVs were classified as pathogenic (n=3) or likely pathogenic (LP) (n=11) or variant of uncertain significance (n=4). The 16p11.2 deletion and 16p13.11 deletion classified as LP were most often detected in 6.5% (3/46), retrospectively. CMA diagnostic yield was 24.3% (9/37 patients) for symptomatic patients. The CNVs results of the commercial newborn screening test using next generation sequencing platforms showed high concordance with CMA results. Conclusion: CMA seems useful as a first-tier test for developmental delay with or without congenital anomalies. However, the classification and interpretation of CMA still remained a challenge. Further research is needed for evidence-based interpretation.

• Journal of the Korean Society of Radiology
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• v.83 no.1
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• pp.199-205
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• 2022

Developmental venous anomalies (DVAs) are common intracranial vascular malformations and they are generally do not cause clinical complications. In cases showing DVA and hemorrhage, the hemorrhage is usually associated with adjacent cavernous malformations. Very few cases of intracerebral hemorrhage (ICH) caused by thrombosis in DVA have been reported in the literature. In this case report, we present an interesting case of a large ICH caused by thrombosis within a DVA with an unusual structure that may have potentiated the thrombosis.

• Clinical and Experimental Pediatrics
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• v.50 no.10
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• pp.1024-1029
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• 2007

Costello syndrome (CS) is a rare multiple congenital abnormality syndrome characterized by a typical coarse face, developmental delay, psychomotor and growth retardation, neurologic abnormalities, cardiac and cutaneous anomalies, severe feeding difficulties with postnatal growth failure, and increased risk of tumors. Since Costello first described it in 1971 and again in 1977, over 100 cases have been reported worldwide. It was recently shown that CS is a congenital condition caused by heterozygous de novo missense mutations affecting the codon for glycine 12 or 13 of the HRAS gene. We experienced three unrelated cases with coarse faces, developmental delays, short statures, macrocephaly, and redundant skin with deep palmar and plantar creases, hypertrophic cardiomyopathy and atrial tachycardia, which are characteristic of CS.

• The Academic Congress of Korean Shoulder and Elbow Society
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• 2008.03a
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• pp.162-162
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• 2008

Many anomalous origins of the long head of the biceps tendon (LHBT) have been reported. However, developmental anomalies of the LHBT are rarely encountered in daily practice. We report a patient with an anomalous LHBT that was adherent to and confluent with the rotator cuff throughout its intra-articular course and present the clinical, magnetic resonance arthrography, and arthroscopic findings.

• Journal of Chest Surgery
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• v.22 no.4
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• pp.655-660
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• 1989

The unroofed coronary sinus syndrome is a spectrum of cardiac anomalies in which part or all the common wall between the coronary sinus and the left atrium is absent. This defect is part of a developmental complex which includes absence of the coronary sinus and termination of a persistent left superior vena cava in the left atrium. Recognition of this complex is important so that interruption or diversion of the left superior vena cava may be done to prevent subsequent central nervous system complications. Surgical correction uses an intraatrial baffle to divert flow from the left superior vena cava to right atrium and to close the atrial septal defect. This report describes a 7 years old female patient in whom the left superior vena cava was identified preoperatively and the complex [unroofed coronary sinus syndrome, common atrium, mitral valve cleft] recognized at the time of operation. Surgical correction, following repair of cleft mitral valve, utilized a Dacron patch baffle to route the left caval blood to the right atrium and included closure of the atrial septal defect

• Clinical and Experimental Pediatrics
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• v.45 no.2
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• pp.273-277
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• 2002

Syndrome of 4q deletion is characterized by an abnormal shape of the skull, craniofacial dysmorphism, cardiovascular malformations, genitourinary defects, limb and digital anomalies, and developmental delay. We experienced a case of 4q interstitial deletion in a 2 day-old female neonate who showed short extremities, partial agenesis of corpus callosum and congenital heart defects. We report the case with a brief review of the literature.