• Genomics & Informatics
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• v.20 no.3
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• pp.28.1-28.7
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• 2022

We described a clinical, laboratory, and genetic presentation of a pathogenic variant of the CYP1B1 gene through a report of a case of primary congenital glaucoma and a trio analysis of this candidate variant in the family with the Sanger sequencing method and eventually completed our study with the secondary/incidental findings. This study reports a rare case of primary congenital glaucoma, an 8-year-old female child with a negative family history of glaucoma and uncontrolled intraocular pressure. This case's whole-exome sequencing data analysis presents a homozygous pathogenic single nucleotide variant in the CYP1B1 gene (NM_000104:exon3:c.G1103A:p.R368H). At the same time, this pathogenic variant was obtained as a heterozygous state in her unaffected father but not her mother. The diagnosis was made based on molecular findings of whole-exome sequencing data analysis. Therefore, the clinical reports and bioinformatics findings supported the relation between the candidate pathogenic variant and the disease. However, it should not be forgotten that primary congenital glaucoma is not peculiar to the CYP1B1 gene. Since the chance of developing autosomal recessive disorders with low allele frequency and unrelated parents is extraordinary in offspring. However, further data analysis of whole-exome sequencing and Sanger sequencing method were applied to obtain the type of mutation and how it was carried to the offspring.

• Journal of Animal Reproduction and Biotechnology
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• v.35 no.3
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• pp.265-267
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• 2020

The congenital head anomalies are most often used to describe defects in the eyes, mouth, nose, skull, and or brain. The faulty embryogenesis most likely found to be associated with abnormal genetic or epigenetic causes during pregnancy. Eventually it leads to congenital anomalies. Rabbit-headed Lamb (RH) is a disorder in sheep breeding that is characterized by some deformities in the head and the face. A dead -day old- crossbred white Najdi lamb with a deformed face and head was reported to be born in the current case. The external and physical examination revealed a deformed skull and facial region with a unilateral eye, fused mouth, pig-like nose, and patent skull with the brain coming out from left eye orbit. Additionally, the lamb was very skinny with unusual long extremities. This is the first report of this syndrome that describes such deformities in a stillbirth Najdi breed lamb.

• Speech Sciences
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• v.9 no.4
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• pp.3-14
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• 2002

VPI occurs when the velum and lateral and posterior pharyngeal wall fail to separate the nasal cavity from the oral cavity during deglutition and speech. There are a number of congenital and acquired conditions which result in VPI. Congenital conditions include cleft palate, submucous cleft palate and congenital palatal insufficiency (CPI). Acquired conditions include carcinoma of the palate or pharynx and neurologic disorders. The speech characteristics of VPI is characterized by hypernasality, nasal air emission, decreased intraoral air pressure, increased nasal air flow, decreased intelligibility. VPI can be treated with various methods that include speech therapy, surgical procedures to reduce the velopharyngeal gap, speech aid prosthesis, and combination of surgery and prosthesis. This article describes four cases of VPI treated by speech aid prosthesis and speech therapy with satisfactory result.

• Journal of Korean Foot and Ankle Society
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• v.19 no.1
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• pp.32-34
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• 2015

Accessory navicular is a congenital anomaly appearing in the secondary ossification center on the tuberosity of the navicular that may cause flatfoot. Bipartite medial cuneiform is another rare congenital anomaly occurring as two primary ossification centers in the medial cuneiform. The authors report a rare case of symptomatic bilateral accessory navicular with bipartite medial cuneiform and flatfoot deformity in a 19-year-old man with a review of the literature.

• Clinical and Experimental Pediatrics
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• v.49 no.4
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• pp.446-450
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• 2006

Congenital central hypoventilation syndrome (CCHS) or Ondine's curse is a very rare sleep disorder that is the result of a congenital failure of the autonomic control of ventilation caused by insensitivity of the chemoreceptor to hypercapnea during sleep. Gastrointestinal motility disorders, particularly a congenital megacolon (Hirschsprung disease) is often combined with CCHS. This combination can be explained by a defect in the migration of neuronal cells from the neural crest (neurocristopathy) during the intrauterine period. A diagnosis of CCHS is made by confirming the failure of adequate ventilation in response to hypercapnea and hypoxia during sleep and the exclusion of other diseases. Young infants frequently show atypical clinical courses, and their conditions are frequently complicated with the long-term sequela of hypoxemic episodes. Therefore, a high index of suspicion and active treatment with mechanical ventilation are important for reducing recurrent hypoxemic episodes in the neonatal period. This paper reports the follow up of a case of CCHS in a neonate who showed frequent intractable apnea and cyanosis and was given artificial mechanical ventilation during sleep.

• Clinical and Experimental Pediatrics
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• v.52 no.4
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• pp.481-487
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• 2009

Purpose : This study investigated the clinical course and prognostic factor of very low birth weight infants (VLBWI) with hemodynamically significant congenital heart defects (CHDs). Methods : Medical records of 1,098 VLBWI with birth weight <1,500 g who had been admitted to the neonatal intensive care unit of Samsung Medical Center from October 1994 to December 2007 were reviewed retrospectively. The data for these patients with hemodynamically significant CHD (n=33) were compared with those without CHD (n=1,065). Results : The incidence of CHD was 3.0% (33 patients) 7 patients (21%) had CHD combined with the congenital abnormalities or chromosomal disorders. The most common CHD was a ventricular septal defect. The incidence of intrauterine growth retardation was higher in patients with CHD than in patients without CHD (34% vs. 20%), but there were no significant differences in gestational age, birth weight, respiratory distress syndrome, bronchopulmonary dysplasia, necrotizing enterocolitis, severe intraventricular hemorrhage (${\geq}$Gr III), and periventricular leukomalacia. Cardiac surgery was performed on 13 patients (39%). Nine patients received staged operations, and 10 patients received early intervention. The overall mortality in patients who had CHD was higher than in the patients who did not have CHD (27% vs. 16%). In patients with CHD, congenital abnormalities or chromosomal disorders were more important factors for increased mortality (86% vs. 11%) than the degree of complexity of CHD (19% vs. 42%). Conclusion : The most important prognostic factors of VLBWI with CHD are the associated congenital abnormalities or chromosomal disorders.

• Clinical and Experimental Pediatrics
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• v.57 no.11
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• pp.500-504
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• 2014

Kaposiform hemangioendothelioma (KHE) is a rare, locally aggressive vascular tumor of intermediate malignancy with resemblance to Kaposi sarcoma. It occurs predominantly in pediatric age groups as a cutaneous lesion with focal infiltration into the adjacent soft tissue and bone. Although visceral involvement is very uncommon, several cases with bone, retroperitoneal, or mediastinal involvement have been described. KHE has been reported to occasionally occur in unusual sites such as the thymus, tonsils, larynx, paranasal sinuses, deltoid muscle, spleen, uterine cervix, thoracic spine, and even the breast. Multifocal KHE is an extremely rare entity with few reports available in the literature, none of which describes pulmonary involvement. Herein, we report a unique case of multifocal KHE in a 13-year-old boy presenting with a huge soft tissue mass in the upper extremity complicated by bilateral pulmonary nodules that developed into large, necrotic tumor masses.

• Journal of Genetic Medicine
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• v.17 no.2
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• pp.79-82
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• 2020

In epilepsy-aphasia spectrum (EAS) disorders, mutations in the glutamate receptor ionotropic N-methyl-D-aspartate type subunit 2A (GRIN2A) have become important for screening the disease. Research into the phenotypic variability of several types of neurologic impairment involving these mutations is in progress. However, the non-neurological problems related to these mutations are poorly understood. EAS disorders usually have epileptic, cognitive, or behavioral manifestations. In this case report, we present a female patient with epilepsy, delay in expressive language and social development, and intellectual disability with low intelligence quotient and memory quotient, but normal motor development. Through genetic analysis, she was found to have a missense and a nonsense mutation in GRIN2A (c.1770A>C; p.Lys509Asn and c.3187G>T; p.Glu1063∗, respectively) and we consider the nonsense mutation as 'pathogenic variant'. She was also discovered to have congenital hypothyroidism, growth hormone deficiency and Rathke's cleft cyst in the brain, which were previously unknown features of GRIN2A mutation. Our findings should widen understanding of the spectrum of GRIN2A phenotypes, and emphasize the need for more research into the association between GRIN2A mutations and non-neurologic clinical presentations.

• The Journal of the Korean dental association
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• v.53 no.11
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• pp.779-788
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• 2015

Individuals with special needs include those with behavioral issues, developmental disorders, cognitive disorders, congenital or genetic disorders, or systemic disease. These conditions may place them at increased risk for oral diseases. Dental management of patients with special needs require in-depth understanding of the background of disability and available behavioral guidance theories. Therefore dental team members need more training in the theory and practice of behavior management principles, which might lead to a clinical experience that is more respectful of the dignity and independence of patients with special needs. The dental professional should be flexible to modify the behavior management approach according to the individual patients needs. Also a family/care-giver centered approach based on their preferences and concerns, the patient's challenging behaviors, and related medical problem can serve to improve the treatment planning and oral health management of dental patients with special needs. This article focuses on uncooperative behavior and behavior management, which help practicing dentists to understand their role in the care of patients with special needs.

• Korean Journal of Cleft Lip And Palate
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• v.8 no.2
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• pp.95-105
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• 2005

Cleft lip and palate is a congenital deformity which needs a professional and consistent management from the birth and along with the physical growth of patients. The patients with cleft lip and palate can have general speech problems with resonance disorders, voice disorders and articulation disorders after the successful primary surgical management and the physical growth. Speech problems of Cleft lip and palate are characterized hypernasality, nasal air emission, increased nasal air flow, and aberrant speech marks which decrease intelligibility. These speech problems of cleft lip and palate can be treated with the secondary surgical procedure, the application of temporary prosthesis and the effective and well-timed speech therapy. The speech and language problems of cleft lip and palate, the general procedures and schedules of the speech assessment and therapy based on the multidisciplinary approach are introduced for the patients with cleft lip and palate, their family and the other members of the cleft palate treatment team.