Clinical and Experimental Pediatrics

Case Report

A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene

Min Young Lee, Ga Won Jeon, Ji Mi Jung, Jong Beom Sin

Clin Exp Pediatr. 2010;53(7):774-777. Published online July 31, 2010

Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis. Mutations of the fibroblast growth factor receptor 1 (FGFR1) gene or FGFR2 gene can cause Pfeiffer syndrome....

DOI: https://doi.org/10.3345/kjp.2010.53.7.774

A Case of Antley-Bixler Syndrome

Young Rae Kim, Kook In Park, Choon Sik Yoon, Ran Namgung, Chul Lee, Dong Gwan Han

Clin Exp Pediatr. 1995;38(4):582-585. Published online April 15, 1995

Antley-Bixler syndrome is a very rare disese of characteristic feature of craniosynostosis, brachycephaly, midface hypoplasia, depressed nasal bridge, radiohumeral synostosis and bowing femur. We presented a case of Antley-Bixtler syndrome with brief review of lituratures.

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A case of Central Diabetes Insipidus Associated with Brachycephaly

Woo Sik Kang, Mee Kyung Namgoong, Jae Seung Yang, Baek Keun Lim, Jong Soo Kim

Clin Exp Pediatr. 1994;37(2):282-287. Published online February 15, 1994

Brachyecphaly is a kind of craniosynostosis. Because of premature closure of the coronal suture, the skull is shorter in the anteroposterior diameter but is widened with a high vault and the occiput and borehead are flattened. Diabetes insipidus had been reported in oxycephaly. We have experienced a case of central diabetes insipidus associated with brachcephaly. A brief review of related literatures...

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A Case of Scaphocephaly in a Newborn.

Chan Uhng Joo

Clin Exp Pediatr. 1985;28(3):297-300. Published online March 31, 1985

Scaphocephaly is a kind of craniosynostosis. Because of premature closure of the sagittal suture in newborn with scaphocephaly, the lateral rgrowth of the head [is limited and the growth of the brain causes the head to expand in the occipitofrontal diameter. I have experienced a case of scaphocephaly in a newborn. A brief review of related literatures is included in...

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