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Chromosome 11q13 deletion syndrome

Yu-Seon Kim, Gun-Ha Kim, Jung Hye Byeon, So-Hee Eun, Baik-Lin Eun

Clin Exp Pediatr. 2016;59(Suppl 1):S10-S13. Published online November 30, 2016

Crossref 11

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,...

DOI: https://doi.org/10.3345/kjp.2016.59.11.S10

Original Article

Clinical Study of Symptoms and Various Anomalies of Patients with Joubert Syndrome

Hang Bo Jeong, Se Hee Hwang, Ki Joong Kim, Yong Seung Hwang, Seung Cheol Kim, In-One Kim

Clin Exp Pediatr. 1997;40(3):385-392. Published online March 15, 1997

Purpose : Joubert syndrome is known tobean autosomal recessive disorder characterized by cerebellar vermian dysgenesis with many symptoms and variety of other malformations. We studied the relevant symptoms and various malformations of seven patients diagnosed as Joubert syndrome at our institution. Methods : Seven children with cerebellarvermian dysgenesis consistent with Joubert syndrome were included in ourstudy. Each child was diagnosed at the Seoul National University Children's...

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