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1.
Oral Science International ; : 56-63, 2006.
Article in English | WPRIM | ID: wpr-362750

ABSTRACT

Normal human development requires the precise functioning and coordination of many complex pathways. Abnormalities in these signaling cascades often result in developmental perturbations, giving rise to congenital anomalies and cancers. There are 21,787 genes in each human nucleus, different gene subsets are expressed in different cell types, and different gene networks make different signal cascades. Among a large number of genes, in this review, we describe signaling disorders of sonic hedgehog and its receptor, patched-1; Tie2; fibroblast growth factor receptor in craniofacial anomalies and oral cancers.

2.
Journal of the Korean Pediatric Society ; : 597-601, 2003.
Article in Korean | WPRIM | ID: wpr-91023

ABSTRACT

Trisomy 9 mosaic syndrome is a rarely reported chromosomal abnormality with high incidence of intrauterine growth retardation and perinatal death. Even a baby lives, he has severe mental retardation and significant malformations. The incidence and severity of malformations and mental retardation correlate with the percentage of trisomic cells in the different tissues. The characteristic craniofacial abnormalitis are narrow bifrontal diameter, up-slanted and short palpebral fissures, a prominent nasal bridge with a short root, a prominent lip covering a receding lower lip, low-set, posteriorly rotated, and misshapen ears. Ventricular septal defect is a main cardiac abnormality. Bony hypoplasia and dislocated hips have been frequently reported. Central nervous system, hepatobiliary, gastrointestinal and genitourinary abnormalities also had been reported. The authors report a baby who had characteristic abnormalities of trisomy 9 mosaicism with narrow temples, up-slanted palpebral fissures, a bulbous nose, thin and protruding upper lip, low set and malformed ears, hyperextended wrist and overlapping fingers. Cytogenetic analysis performed to confirm the chromosomal abnormality revealed trisomy 9, low level mosaic type.


Subject(s)
Central Nervous System , Chromosome Aberrations , Cytogenetic Analysis , Ear , Fetal Growth Retardation , Fingers , Heart Septal Defects, Ventricular , Hip , Incidence , Intellectual Disability , Lip , Mosaicism , Nose , Trisomy , Urogenital Abnormalities , Wrist
3.
Korean Journal of Obstetrics and Gynecology ; : 3081-3084, 1998.
Article in Korean | WPRIM | ID: wpr-191252

ABSTRACT

The amniotic band syndrome is a collection of congenital deformities presurmably due to rupture of amniotic sac. It appears to cause fetal injury through three basic mechanisms including malformation, disruption, and deformation. The associated anomalies vary firom minor digital defect to major craniofacial and visceral defects. They can be categorized as neural tube-like defects, craniofacial anomalies, limb anomalies, abdominal and thoracic wall defects, visceral anomalies, and constriction bands. We had expericnced a case of severe congenital craniofacial anomaly due to amniotic bands diagnosed by ultrasonogram in the antenatal period is presented with a brief review of the literatures.


Subject(s)
Infant, Newborn , Amniotic Band Syndrome , Congenital Abnormalities , Constriction , Extremities , Rupture , Thoracic Wall , Ultrasonography
4.
Journal of the Korean Pediatric Society ; : 589-591, 1981.
Article in Korean | WPRIM | ID: wpr-163210

ABSTRACT

We have experienced a case of 18p- syndrome in 22 month old girl who had craniofacial anomaly such as microcephaly, hypertelorism, nystagmus, depressed nasal bridge, complete bilateral cleft palate, both ear canal stenosis and mental retardation. Chromosome culture revealed short arm deletion of chromosome 18 in E group. As far as we know, this case is the first report of 18p- syndrome in Korea and brief review of related literature was made.


Subject(s)
Female , Humans , Infant , Arm , Chromosomes, Human, Pair 18 , Cleft Palate , Constriction, Pathologic , Ear Canal , Hypertelorism , Intellectual Disability , Korea , Microcephaly
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