• Journal of Korean Neurosurgical Society
• /
• v.57 no.5
• /
• pp.386-388
• /
• 2015

We wish to show our experiance with threating a rare congenital brain malformation-encephalocele. It is a protusion of brain matter with greater incidence in the Far East. Our case is even more curious because of the site of occurrence-frontobasal. Most of encephalocele occur in the occipital region. In this article we report a case of a 57-year-old woman, without deformations on the face, which had epileptic seizures and in spite of receiving antiepileptic drug. She was also frequently treated for sinusitis. She never had rhinoliquorrhea, nor was she diagnosed to have meningitis. In the last few years she had difficulty breathing on her right nostril. After she was diagnosed with encephalocele and treated surgically her recovery was complete and she is without the seizures.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.11 no.1
• /
• pp.249-254
• /
• 1984

This is a case report of Crouzon's disease as a kind of craniofacial dysostosis by premature closure of unilateral coronal suture, showed plagiocephalic skull. 5-year-old boy was visited for the treatment of dental caries and oral examination. Physical examination showed hypertelorism, internal strabismus, and saddle nose. Intraoral radiographs showed congenital missing of upper right and left deciduous and permanent lateral incisors. Cephalometric analysis showed shortening the posterior cranial base length, clockwise growth pattern and class III and open bite tendency. Posterior-anterior and submentovertex view showed multiple radiolucencies-digital impression on inner surface of cranial vault. Maxillo-facial and neuro-surgical treatment was required to improvement of facial esthetics and optic complications. Continuous examination was needed to the growth and development.

• Clinical and Experimental Pediatrics
• /
• v.54 no.6
• /
• pp.272-275
• /
• 2011

A recently recognized connective tissue disorder, Loeys-Dietz syndrome (LDS) is a genetic aortic aneurysm syndrome caused by mutations in the transforming growth factor-receptor type I or II gene (TGFBR1 or TGFBR2). They have distinctive phenotypic abnormalities including widely spaced eyes (hypertelorism), bifid uvula or cleft palate, and arterial tortuosity with aortic aneurysm or dissection throughout the arterial tree. LDS is characterized by aggressive and rapid progression of aortic aneurysm. Therefore, the patients with distinct phenotype, marked aortic dilatation and aneurysm at early age should be suspected to be affected by LDS and rapid TGFBR gene analysis should be done. We report one child diagnosed as LDS due to typical phenotypes and two novel missense mutations of the TGFBR2 gene (c.1526G>T and c.1528A>T).

• Journal of Genetic Medicine
• /
• v.16 no.1
• /
• pp.27-30
• /
• 2019

Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It is caused by a heterozygous germline mutation in MTOR (OMIM 601231). Ten different MTOR germline mutations in 27 individuals have been reported in the medical literature to date. These were all gain-of-function missense variants, and about half of the 27 individuals had c.5395G>A p.(Glu1799Lys) in MTOR. Here, I report for the first time a Korean patient with the heterozygous germline mutation c.5395G>A p.(Glu1799Lys) in MTOR. It was found to be a de novo mutation, which was identified by whole-exome sequencing and confirmed by Sanger sequencing. The patient showed typical clinical features of SKS, including macrocephaly/megalencephaly; moderate intellectual disability; seizures; behavioral problems; and facial dysmorphic features of curly hair, frontal bossing, midface hypoplasia, and hypertelorism.

• Journal of International Society for Simulation Surgery
• /
• v.1 no.1
• /
• pp.7-12
• /
• 2014

Purpose Surgical correction of various occular problems which do not have visual problem in plastic surgical area is to normalize the appearance of the face by restoring the normal position of orbit and eyeball. With development of surgical technique, the orbit can be restored exactly in trauma patient and can be moved totally in hypertelorism, as an example of congenital disease. All these surgeries are based on the hypothesis that the position of oclular glove moves in the plane in a quantitatively predictable reationship to osseous orbit movement. However, no studies have critically evaluated between the change of periorbital soft tissue and the outcome of the surgical correction, because there is no method of objective, quantitave evaluation of the periorbital soft tissue. Method Author suggest the methodology for quantitative assessment of ocular and periocular fat changes using the manipulation of digital images of computed tomographic scan. Results The method was allowed to evaluate inter-dacryon distance, inter-centroid distance, movement of the medial orbital wall, movement of the lateral orbital wall, alteration of thickness of the lateral periorbital fat as indicator of movement of the orbital wall and orbit in the patient with congenital periorbital anomaly and postoperative periorbital surgery. The goal of surgical correction of various occular problems which do not have visual problem in plastic surgical area is to normalize the appearance of the face by restoring the normal position of orbit and eyeball. With development of surgical technique, the orbit can be restored exactly in trauma patient and can be moved totally in hypertelorism, as an example of congenital disease. All these sugeries are based on the hypothesis that the position of oclular glove moves in the plane in a quantitatively predictable relationship to osseous orbit movement. However, no studies have critically evaluated between the change of periorbital soft tissue and the outcome of the surgical correction, because there is no method of objective, quantitave evaluation of the periorbital soft tissue. In this report, author suggest the methodology for quantitative assessment of ocular and periocular fat changes using the manipulation of digital images of computed tomographic scan. Conclusion The method suggested is objective and accurate method in measurement of the orbital contents. It takes time and is not easy to do, however, this kind of measurement for fine structures will be more easily available in near future.

• Journal of Chest Surgery
• /
• v.42 no.5
• /
• pp.639-644
• /
• 2009

Characterized by unique phenotypic features such as aortic aneurysm/dissection, hypertelorism, bifid uvula/cleft palate and generalized tortuosity in the arterial system, Loeys-Dietz syndrome is a newly described aggressive connective tissue disorder associated with mutation in the gene encoding transforming growth factor-$\beta$ receptor type I or type II. Some phenotypic manifestations of Loeys-Dietz syndrome overlap with those of Marfan syndrome or Ehlers-Danlos syndrome type IV. However, due to its more malignant pathophysiologic nature, physicians should be alert to Loeys-Dietz syndrome. High suspicion, early diagnosis, preventive surgery and serial imaging assessments are warranted for optimal management of Loeys-Dietz syndrome. We present here a case of a young patient with Loeys-Dietz syndrome who had aortic rupture, bifid uvula and hypertelorism. We also present a review of the medical literature.

• Journal of Genetic Medicine
• /
• v.9 no.2
• /
• pp.89-92
• /
• 2012

Campomelic dysplasia (CMD) is a rare, often lethal, genetic disorder characterized by multiple congenital anomalies and abnormal development of the reproductive organs in males. Mutations in the SOX9 gene are known to cause CMD. We present a Korean CMD girl with a normal 46,XX karyotype and a female reproductive organ phenotype. She was born at 2.35 kg at 38 weeks of gestation and showed characteristic phenotypes, including cleft palate, micrognathia, hypertelorism, flat nasal bridge, congenital bowing of limbs, hypoplastic scapulae, deformed pelvis, and 11 pairs of ribs. She also had an atrioseptal defect of the heart and marked laryngotracheomalacia requiring tracheostomy and tracheopexy. SOX9 mutation analysis revealed the presence of a novel nonsense mutation, $p.Gln369^*$, and the patient was genetically confirmed to have CMD. Although she showed marked failure to thrive and neurodevelopmental delay, she is now 40 months of age and is the only surviving patient with CMD in Korea.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.41 no.2
• /
• pp.166-173
• /
• 2014

The basal cell nevus syndrome is also known as the Gorlin-Goltz syndrom. It is a dominant autosomal disorder which is characterized by keratocystic odontogenic tumors in the jaw, skeletal abnormalities, and multiple basal cell nevi carcinomas. This study reports an 11-year-old boy with multiple odontogenic keratocysts in the jaw, hypertelorism, and frontal bossing. When a young patient has cystic lesions with an impacted permanent teeth, it is important to preserve the teeth. For a growing patient with impacted permanent teeth, a more conservative method is suggested, which will enable the preservation the permanent teeth in Gorlin-Goltz syndrome.

• Journal of Genetic Medicine
• /
• v.10 no.1
• /
• pp.47-51
• /
• 2013

Loeys-Dietz syndrome (LDS) is an autosomal dominant disorder caused by heterozygous mutations in the genes encoding transforming growth factor-${\beta}$ receptor type 1 or 2. It is typically characterized by a triad of hypertelorism, cleft palate or bifid uvula, and arterial tortuosity with aneurysm or dissection. Characteristic vascular abnormalities such as tortuosity, aneurysms, dissections, and stenosis are the most severe complications of LDS and can occur in the neurovascular system. We report a 5-year-old boy who presented with headaches and neurovascular abnormalities and was diagnosed with LDS with a novel mutation of the TGFBR1 gene. It is the first Korean report of neurovascular abnormalities in LDS.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.23 no.1
• /
• pp.31-35
• /
• 2012

Noonan syndrome is characterized by short stature, typical facial dysmorphology, and congenital heart defects. The main facial features of Noonan syndrome are hypertelorism with down-slanting palpebral fissures, ptosis, and low-set posteriorly-rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency, and lymphatic dysplasias. The patient is a 10-year-old boy. He had experienced repeated febrile convulsions. He had typical facial features, a short stature, chest deformity, cryptorchidism, vesicoureteral reflux, and mental retardation. His language and motor development were delayed. When he went to school, it was difficult for him to pay attention, follow directions, and organize tasks. He also displayed behavior such as squirming, leaving his seat in class, and running around inappropriately. Clinical observation is important for the diagnosis, so we report a patient who was diagnosed with Noonan syndrome, mental retardation, and attention-deficit hyperactivity disorder.