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Case Report
A case of McKusick-Kaufman syndrome
Se-Hyung Son, Yoon Joo Kim, Eun Sun Kim, Ee-Kyung Kim, Han-Suk Kim, Beyong Il Kim, Jung-Hwan Choi
Clin Exp Pediatr. 2011;54(5):219-223.   Published online May 31, 2011

McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children's Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She...

A Case of Saldino-Noonan Type Short Rib-Polydactyly Syndrome
Hye Young Han, Gwang Hoon Lee, Eell Ryoo, Kang Ho Cho, Mi Jin Jung, Gil Hyun Kim, Hak Soo Lee, Hyuni Cho
Clin Exp Pediatr. 2000;43(4):578-582.   Published online April 15, 2000
Short rib-polydactyly syndrome(SRPS) is a rare type of skeletal dysplasia characterized by short limb dysplasia, thoracic hypoplasia, polydactyly and multiple visceral anomalies. It is transmitted as a autosomal recessive trait. There have been 4 classic types of SRPS, of which Saldino-Noonan type is the most common, and is characterized by very narrow thorax, short limb, postaxial polydactyly, striking metaphyseal dysplasia...
Erratum
A Case of Joubert Syndrome
Hye-Young Kim, Sun-Jun Kim, Jung-Soo Kim
Accepted January 1, 1970  
Joubert syndrome is frequently associated with developmental delay and mental retardation, neonatal tachypnea and apnea, abnormal eye movements, and ataxia. It is inherited by an autosomal recessive trait. The most significant and constant neuropathological finding is partial or total agenesis of cerebellar vermis. Absence of the vermis results in a triangular-shaped mid-fourth ventricle and a "bat-wing" shaped fourth ventricle superiorly. The superior cerebellar peduncles...
Case Report
A Case of McKusick-Kaufman Syndrome
Han Joo Kong, Young Mi Jee, In Kyung Sung, Byung Churl Lee
Clin Exp Pediatr. 1992;35(6):829-833.   Published online June 15, 1992
We experienced a case of Mckusick-Kaufman syndrome in a 14 day-old female neonate. She had hydrometrocolpos with vaginal atresia and polydactyly of feet associated with bilateral hydronephrosis and umbilical hernia. Hydronetrocolpos with vaginal atresia was corrected by abdominoperineal-vaginal pull through operation on 21st day of life. A brief review of related literatures was made.
Original Article
A Case of Short Rib-Polydactyly Syndrome, Type 3.
Yong Woo Park, Jun Ho Kim, Yo Han Kim, Eun Ryong Kim, Soon Jai Lee, Young Jin Kim
Clin Exp Pediatr. 1987;30(12):1439-1445.   Published online December 31, 1987
A case of the Naumoff type (type 3) of short rib-polydactyly syndrome is reported. The skeletal changes included bulging forehead, flat occiput, short cranial base, extremely short horizontal ribs, abnormal vertebrae, and post-axial polydactyly. Microscopically, cartilage showed markedly stunted and disorganized endochondrial ossification. Extraskeletal manifestation were cleft palate, pulmonary hypoplasia, hydropelvis and hydroureter with narrowing of ureterovesical junction. Differentiation from other type of short rib-polydactyly syndrome...