• Childhood Kidney Diseases
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• v.22 no.1
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• pp.12-16
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• 2018

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital malformation syndrome that is characterized by a triad of uterine didelphys, blind hemivagina, and ipsilateral renal agenesis. There is a wide variety of phenotypic presentation which is recognized as a spectrum of disease rather than a separate entity. The exact incidence and pathogenesis of HWW syndrome are yet to be investigated. While this disease typically involves adolescent girls who present with abdominal pain or a pelvic mass that is secondary to hematocolpos, nowadays, a majority of potential patients with HWW are being prenatally screened for renal anomalies. Therefore, it is recommended to search for uterovaginal anomalies whenever a multicystic dysplastic kidney or the absence of a kidney is noted in a newborn female, and the role of pediatric nephrologists has become ever more important for early recognition of the disease.

• Korean Journal of Health Psychology
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• v.16 no.1
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• pp.169-187
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• 2011

The present study explored psychosocial characteristics of infants with genital anomalies (GA) and their caregivers against normal controls. Participants were female caregivers and infants between the ages of 6to38months diagnosed with hypospadias(HS;n=103) or cryptorchidism (CR;n=49). Normalcontrols(n=131) were recruited and selected via Internet. Caregivers completed measures on parenting stress, coping style, social support, and infant temperament. Within the GAgroups, HScaregivers reported their greatest parental concerns as infant urination/bodily functioning difficulties whereas CRcaregivers reported worries related to surgical anesthesia issues. Both groups reported concern about their children's potential reproductive problems. Per caregiver report, infants with GA had lower ability to self-soothe. HS infants in particular were perceived as exhibiting greater negative emotion. Compared with controls, HS and CRcaregivers overall employed coping strategies more frequently and had lower interpersonal sensitivity and parental distress. However, HScaregivers emerged as experiencing higher stress when compared to the CRgroup. There were no differences in to tal parenting stress and social support scores between groups. Further, CRcaregivers reported lower levels of family discord than controls. Despite temperament-related differences between infants with GA and normal controls, HS and CRcaregivers reported lower parental distress and greater use of coping skills as compared to controls. Clinical implications are discussed.

• Journal of Medicine and Life Science
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• v.19 no.3
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• pp.121-124
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• 2022

This case report describes a case of isolated (not associated with other anomalies) lower vaginal hypoplasia complicated by megalourethra (urethral dilatation) due to frequent urethral sexual intercourse in a regularly menstruating (hypomenorrheic) woman. The patient was a 24-year-old woman who underwent transperineal ultrasonography as well as magnetic resonance imaging followed by sequential cystoscopic and vaginoscopic examinations. Finally, a pull-through procedure was used to create a new vagina. The main outcome measure was patent vagina formation. The procedure successfully corrected isolated lower vaginal hypoplasia. The postoperative course was smooth, with the restoration of regular intercourse in the correct location. It was concluded that all gynecologists should have increased awareness of rare female genital anomalies to avoid serious sequelae, particularly in newly married patients.

• Journal of Genetic Medicine
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• v.15 no.1
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• pp.38-42
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• 2018

WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which is characterized by Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. We report the clinical and cytogenetic characteristics of one Korean patient with WAGR syndrome. The patient shows bilateral sporadic aniridia and genital anomalies at 2 months of age. A heterozygous 14.5 Mb interstitial deletion of 11p14.3p12 region was detected by array comparative genomic hybridization. At 2 years and 10 months of age, Wilms tumor is found through regularly abdominal ultrasonography and treated by chemotherapy, radiation therapy and surgery.

• Clinical and Experimental Pediatrics
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• v.57 no.6
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• pp.292-296
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• 2014

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.

• Clinical and Experimental Pediatrics
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• v.57 no.1
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• pp.46-49
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• 2014

CHARGE syndrome has been estimated to occur in 1:10,000 births worldwide and shows various clinical manifestations. It is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. The major clinical features are ocular coloboma, heart malformations, atresia of the choanae, growth retardation, genital hypoplasia, and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene, located on chromosome 8q12.1, causes CHARGE syndrome. The CHD7 protein is an adenosine triphosphate (ATP)-dependent chromatin remodeling protein. A total of 67% of patients clinically diagnosed with CHARGE syndrome have CHD7 mutations. Five hundred twenty-eight pathogenic and unique CHD7 alterations have been identified so far. We describe a patient with a CHARGE syndrome diagnosis who carried a novel de novo mutation, a c.3896T>C (p. leu1299Pro) missense mutation, in the CHD7 gene. This finding will provide more information for genetic counseling and expand our understanding of the pathogenesis and development of CHARGE syndrome.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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• pp.48-53
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• 2014

Smith-Lemli-Opitz syndrome (SLO) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. Here, we describe Korean siblings with SLO who were diagnosed recently, and performed a review of literature about Korean cases with SLO to date. Microcephaly and syndactyly of the second and third toes are the most common physical finding in SLOS patients. Other malformations including growth failure, cleft palate or bifid uvula, various heart malformation, genital ambiguity in males are also accompanied. Not all patients showed low levels of serum cholesterol, so DHCR7 mutation analysis can be helpful to confirmative diagnosis. Two mutations on p.R352 locus (p.R352W and p.R352Q) are commonly identified in Korean SLO patients. Although rare in Korea, SLO should be considered in the differential diagnosis of growth failure with intellectual disability, especially in patients with multiple congenital anomalies.

• Clinical and Experimental Pediatrics
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• v.52 no.2
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• pp.242-246
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• 2009

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

• Journal of the korean academy of Pediatric Dentistry
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• v.35 no.4
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• pp.725-730
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• 2008

Nevoid basal cell carcinoma syndrome is an ecto-mesodermal polydysplasia with numerous manifestations that affect multiple organs. The syndrome is an autosomal dominant inherited, with a high penetration and visible expression. The syndrome is characterized by a series of associated anomalies such as cutaneous, dentofacial, skeletal, ophthalmologic, neurological, and genital anomalies. Generally, the jaw cysts are multiple odontogenic keratocysts, affecting any area of maxilla and mandible. Multiple odontogenic keratocysts of this syndrome are more recurrent than the keratocysts of non-syndrome, thus they are treated aggressively for complete removal. We report a case of multiple jaw cysts associated with nevoid basal cell carcinoma syndrome. In clinical and radiological examinations, frontal bossing, hypertelorism, mild mental retardation and two odontogenic keratocysts in both the maxilla and mandible were observed. Two cysts were treated by marsupialization. For the management of eruption of unerupted teeth, periodic recall check and orthodontic treatment are required.

• Childhood Kidney Diseases
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• v.3 no.2
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• pp.196-202
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• 1999

Purpose : When the mature kidney fails to reach its norml location in the renal fossa, the condition is known as ectopic kidney. Presenting symtoms can be various and it generally depend on the associated anomaly. Beside urologic anomalies such as hydronephrosis and vesicoureteral reflux, various anomalous vascular net work, skeletal anomaly or genital anomaly can be observed in this condition. Methods : Sixteen children with ectopic kidney was studied retrospectively to analyse initial presentation, accompanied anomaly and prognosis. Results : 56% of the children were accompanied with other urologic anomalies such as true incontinence and vesicoureteral reflux that required surgical treatment. 31% of children were either diagnosed incidentally during evaluation of other non-urologic disease or during follow-up evaluation of abnormal antenatal renal sonogram. Conclusion : Ectopic kidney can be often misdiagnosed as tumorous condition or as a surgical condition depend on the abnormal location of the kidney. Careful evaluation using abdominal sonogram, DMSA, VCUG and abdominal CT scan should be performed in order to search for associated anomalous condition and for proper management.