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Case Report
A Case of Apert`s Syndrome(Acrocophalosyndactyly) with Fibroblast Growth Factor Receptor 2 Exon Ⅲa Mutation
Hyung Su K, Pyl Soon Yang, Jee Yeoun Kang, Ok Young Kim, Chul Hae Ku, Wha Mo Lee
Clin Exp Pediatr. 2000;43(7):1006-1011.   Published online July 15, 2000
Apert syndrome is an uncommon congenital disorder characterized by malformation of the skull in association with symmetrical syndactyly of both hands and feet. This syndrome is autosomal dominant. The original description was presented by Apert in 1906. Since then more than 200 cases have been reported in the world. Recently, we experienced a case of newhorn male infant with congenital...
A Case of Greig Cephalopolysyndactyly Syndrome
Seon Hee Shin, Je Woo Kim, Young Ah Lee, Hae Sun Yoon, Hyun Chan Cho
Clin Exp Pediatr. 2000;43(1):128-132.   Published online January 15, 2000
Greig cephalopolysyndactyly syndrome(GCPS) is a disorder characterized by postaxial polydactyly of the hand, broad or occasionally bifid thumbs, preaxial polydactyly of the feet, broad halluces, syndactyly of the fingers or toes, macrocephaly, frontal bossing, hypertelorism and a broad nasal bridge. Intelligence is usually normal, although borderline IQ has been reported. Advanced bone age, mild hydrocephalus, craniosynostosis and agenesis of the corpus callosum are occasionally associated...
A Case of Berry Syndrome associated with Syndactyly
Sang Chun Jung, Kyoung Sim Kim, Yong Wook Kim, Ki Bok Kim
Clin Exp Pediatr. 1998;41(4):543-547.   Published online April 15, 1998
Berry syndrome is a rare association of congenital heart anomalies which consists of a distal aortopulmonary window with aortic origin of the right pulmonary artery and hypoplasia or interruption of the aortic arch. This defect can be corrected only by immediate surgical intervention, so accurate preoperative diagnosis and detailed anatomic depiction of this syndrome are important in prognosis. We experienced a case of Berry...
A Case of Phakomatosis Pigmentovascularis
Seung Mo Park, Kook In Park, Hye Jung Joo, Ran Namgung, Chul Lee, Dong Gwan Han, Soo Il Chun
Clin Exp Pediatr. 1994;37(8):1156-1161.   Published online August 15, 1994
In 1947, Ota et al. First reported a case of phakomatosis pigmentovascularis and defined a subgroup of this disease having a congenital generalized hemangioma and pigmented lesions including anmongolian spot-like lesion, nevus pigmentosus and nevus of Ota. We experienced a case of phakomatosis pigmentovascularis type Iib in a 10-day old male baby, who since birth, had generalized nevus flammeus and...
Three Cases of Apert Syndrome (Acrocephalosyndactyly)
Young Sil Ahn, Jong Won Lee, Jin Keon Bang, Doo Bong Lee
Clin Exp Pediatr. 1994;37(8):1149-1155.   Published online August 15, 1994
Apert syndrome is an uncommon, congenital disorder characterised by malformation of the skull, most often acrocephaly or oxycephaly, in association with symmetrical syndactyly of both hands and feet. It is due to disturbance in the growth of bone and soft tissue affecting principally the head, the hands and the feet. The original description was presented by Troquart in 1886, and...
Original Article
Two Cases of Poland Syndrome.
Kul Ha Yoo, Ki Soo Pai, Byung Ju Chung, Chul Lee, Dong Gwan Han, Jong Doo Lee
Clin Exp Pediatr. 1989;32(5):713-717.   Published online May 31, 1989
Poland syndrome is characterized by an absence of the pectoralis major muscle, with ipsilateral defect of the upper extremity, usually syndactyly. The incidence of this syndrome has been estimated at 1 per 25,000 to 77,000 persons and more than 100 patients have been described worldwide. Recently, we experienced two patients, the one was 14 year old male, who showed absence of left pectralis maior...
Case Report
A Case of Apert's Syndrome.
In Kwyu Park, Kang Ho Kim, Yeong Bong Park, Jin Heon Kim, Chang Soo Ra
Clin Exp Pediatr. 1986;29(9):1002-1006.   Published online September 30, 1986
Apert’s syndrome is an uncommon, congenital disturbance in the growth of bone and soft tissue affecting principally the head, the hand and feet. So there is skull malformation, most often acrocephaly, associated with symmetrical malformation of both hand and feet. This syndrome was first described by Apert in 1906. since that time, over 200 cases have been reported in the...