두개 이열증을 동반한 Robinow 증후군 (Fetal Face Syndrome) 1례

A Case of Robinow Syndrome(Fetal Face Syndrome) Associated with Cranium Bifidum

저자들은 경련을 주소로 내원한 환아에서 저신장을 보이며 전형적인 태아 얼굴 모양과 전완단증, 미소음경의 임상소견을 특징으로 하고 두개 이열증을 동반한 Robinow 증후군 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

Robinow syndrome is a rare inherited disorder initially reported by Robinow et al. in 1969 as a new dwarfing syndrome. It is characterized by the presence of fetal face, forearm shortening, genital hypoplasia, and hemivertebrae. The autosomal recessive form of Robinow syndrome shows a more severe clinical phenotype which is expressed by the mutation of homozygous ROR2(Receptor tyrosine kinase like Orphans) gene, mapped to the chromosome 9q22, a region that overlaps the locus for autosomal dominant inherited brachydactyly type B(BDB). ROR2 encodes the receptor tyrosine kinase, which is important for the development of mesomelic long bones. We experienced a boy diagnosed as a Robinow syndrome with fetal face(frontal bossing, hypertelorism, small up-turned nose, triangular mouth with down turned angles, micrognathia), large anterior fontanelle, cranium bifidum, mesomelic shortening, cryptorchidism. We present this case with a brief review of related literature.