• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.10-13
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• 2016

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

• Fisheries and Aquatic Sciences
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• v.14 no.2
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• pp.148-160
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• 2011

Thirty-one gross abnormalities that have been observed in tilapia are described: 10 fin, five eye, five jaw, four body shape, three head, two yolk sac, one operculum, and conjoined twins. Twenty-one have been described in published papers; the others were obtained from a survey. Breeding experiments revealed that three were heritable, while six were not heritable. Five could be caused by a bacterial infection, and one could be produced by a fungus. Four deformities were in offspring of males that had been injected with methyl methane sulphonate. Three were produced when sperm was treated with methyl methane sulphonate. Six were observed during sex reversal studies, and one was found following heat shock of fertilized eggs. Three were observed in polluted river water. The cause of other deformities is not known.

• Clinical and Experimental Pediatrics
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• v.53 no.12
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• pp.1018-1021
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• 2010

Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the $SALL1$ gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis of these syndromes. We report the case of a family whose members were diagnosed with TBS with congenital hypothyroidism and had a novel $SALL1$ gene mutation.

• Annals of Clinical Neurophysiology
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• v.13 no.1
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• pp.13-20
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• 2011

Neuro-ophthalmological findings are common and occasionally prominent features in movement disorders. Accordingly, careful evaluation of the ocular motor functions may provide valuable information in early detection of the diseases and monitoring of the progression. Furthermore, accurate assessment of the abnormal ocular motor findings aids in understanding the pathophysiology and mechanisms of the movement disorders, and in their differential diagnosis. Ocular motility examination should include bedside evaluation and laboratory recording of the fixational abnormalities, saccades, smooth pursuit, the vestibulo-ocular reflex, optokinetic nystagmus, and vergence eye movements. In this review, we will discuss various ocular motor findings in ataxia and parkinsonian syndromes, and hyperkinetic movement disorders.

• Fisheries and Aquatic Sciences
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• v.15 no.2
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• pp.117-123
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• 2012

The starry flounder Platichthys stellatus, like all flatfish, exhibits conspicuous lateral asymmetry in numerous traits, most obvious of which is the migration of one eye to the other side of the head during metamorphosis. Additional changes related to eye migration include asymmetrical pigmentation, and a behavioral shift from larvae that exhibit upright, open-water swimming to juveniles and adults that lie on the ocean floor, eye side up. However, the morphology of these juveniles has been quite plastic in recent years, a phenomenon which is thought to be related to a diverse suite of semi-intensive and intensive larviculture methods. The cause of morphological abnormalities in the farmed flatfish is poorly understood. In the present study, we observe the features of morphological specificity and abnormality of immature fish (mean total length 23 cm) and survey the occurrence frequency of the specificity and abnormality of juvenile (mean total length 6.70 cm) in artificial culture facility. We find 2 types of abnormality (e.g., albino in ocular side and hypermelanosis in blind side) and 1 type of specificity (e.g., lateral polymorphism). These considerably differ from normal individuals (has sinistral eye and pigmented on only one side) by several characteristics (dextral eye, ocular side albinism, blind side hypermelanosis). The incidences of albinism, hypermelanosis, and body reversal are $10.1{\pm}2.56%$, $91.7{\pm}1.7%$, and $13.1{\pm}1.1%$, respectively. These suggest that these morphometric and morphological differences occur more in artificial environment during and just after metamorphosis.

• Childhood Kidney Diseases
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• v.4 no.1
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• pp.48-56
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• 2000

Purpose: Alport SD., the most common herectitary rephriris, is a renal disease with rapid progression. Deafness, ocular abnormalities and a specific EM finding may be associated in addition to a family history. We have aralyged retrospectively. Methods: We observed 12 children with Alport syndrome who were diagnosed at Dept. of pediatrics in Kyunghee Univ., College of Medicine, from Apr. 1991 until Jun. 1999. We used four criteria for diagnosis: renal disease, family history, deafness or eye abnormalities, and a specific finding in electron microscopy Results: 2 of 12 patients had all features of the four diagnostic criteria. We could not trace an exact family history in 3 patients, and 6 patients did not exhibit deafness or eye abnormality. One could not have renal biopsy because offer chronic renal failure. Other three criteria were observed in her. The ratio of male to female observed was 1:2 respectively and the mean age of initial renal symptom was 5.6 years. 9 of 12 patients had a family history of renal disease. In the audiogram and ocular examination for 11 of 12 cases, sensorineural hearing loss was observed in 6 and ocular abnormality in 2 cases. In electron microscopic finding, irregular thickness of the capillary basement membranes with lamination of lamina densa and foot process obliteration was noted in 9 of 11 and thin basement membrane with splitting and foot process obliteration was noted in the other 2. The mean period of follow-up was 3 6/12 years. And one patient developed the chronic renal failure until now and had kidney transplantation. Conclusion: For the diagnosis of Alport syndrome, the following four diagnostic criteria are very important : renal disease, family history, deafness or eye abnormalities, and a specific finding on electron microscopy. We expect that more patients can be detected through the analysis of these characteristics.

• Journal of mucopolysaccharidosis and rare diseases
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• v.1 no.2
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• pp.35-39
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• 2015

Sleep problems occur frequently among patients with Prader-Willi syndrome (PWS). The most common problem is excessive daytime sleepiness (EDS) that are closely related to of sleep-related breathing disorder (SRBD) such as obstructive sleep apnea (OSA) and congenital hypoventilation syndrome. Obesity, craniofacial dysmorphism and muscular hypotonia of patients with PWS may increase the risk of SRBD. Sleep apneas can interrupt the continuity of sleep, and these disruptions result in a decrease in both the quality and quantity of sleep. In addition to SRBD, other sleep disorders have been reported, such as hypersomnia, a primary abnormality of the rapid eye movement (REM) sleep and narcolepsy traits at sleep onset REM sleep. Patients with PWS have intrinsic abnormalities of sleep-wake cycles due to hypothalamic dysfunction. The treatment of EDS and other sleep disorders in PWS are similar to standard treatments. Correction of sleep hygiene such as sufficient amount of sleep, maintenance of regular sleep-wake rhythm, and planned naps are important. After comprehensive evaluation of sleep disturbances, CPAP or surgery should be recommended for treatment of SRBD. Remaining EDS or narcolepsy-like syndrome are controlled by stimulant medication. Bright light therapy might be beneficial for disturbed circadian sleep-wake rhythm caused by hypothalamic dysfunction.

• Journal of Korean Neurosurgical Society
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• v.44 no.3
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• pp.156-158
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• 2008

Intraorbital hemorrhage is a rare clinical condition caused by orbital trauma, surgery around the orbit, intraorbital vascular abnormalities, and neoplasm. It was reported to occur spontaneously without any known causes and in association with orbital pseudotumor in a very few cases. A 59-year-old, female patient admitted with sudden onset of severe exophthalmos and pain on the left eye. Orbital CT and MR imaging suggested hemorrhage in the upper part of retrobulbar area of the left orbit. Cerebral angiography was taken to rule out any possible vascular abnormalities. On the left carotid cerebral angiography, the run-off of the distal ophthalmic artery was not seen and the engorgement of the supraophthalmic artery was noted. Systemic administration of corticosteroid did not improve the clinical status and craniectomy was done and retrobulbar hematoma was removed, and the clinical symptoms and signs were improved. Authors report a case of spontaneous intraorbital hemorrhage with the clinical features similar to those of orbital pseudotumor, requiring surgical decompression.

• Journal of Genetic Medicine
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• v.14 no.1
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• pp.43-47
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• 2017

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects. This genetic disorder is caused by partial duplication of chromosome 22, mostly as a result of a supernumerary isodicentric marker chromosome idic(22)(q11.2). Various congenital abnormalities and extreme phenotypic variability in CES patients have been reported, which have made prenatal diagnosis of CES difficult. We report the first case diagnosed with CES prenatally by multiplex ligation-dependent probe amplification in a woman who was referred to our hospital, for a fetus presenting with heart anomaly.

• Parasites, Hosts and Diseases
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• v.26 no.2
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• pp.133-136
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• 1988

On October 26, 1987, the authors encountered a case of human thelasiasis involving both eyes. The case in Chollapuk-do, Korea, a farmer aged 23, complained of mild lacrimation for 3 weeks followed by 1 week duration of foreign body sensation in both eyes prior to examination of eyes. The conjunctivae of both eyes appeared slightly reddened. No other abnormalities were noticed. Total 6 worms, one male and two females from each eye, were removed, parasitologically studied, and identified as Thelazia callipaeda Railliet and Henry, 1910.