Purpose or Case Report: Van Den Ende-Gupta syndrome (VDEGS) is an extremely rare autosomal recessive disorder with mutation of SCARF2. It is characterized by distinctive craniofacial and skeletal manifestations include blepharophimosis, a narrow nose, malar hypoplasia, deformed ears, an everted lower lip, flexion contractures, camptodactyly, arachnodactyly and dolichostenomelia, while development and intelligence are normal. It needs a regular follow-up with orthopedics because of joint contracture deformity and scoliosis.

Methods & Materials: A female baby was born at 40⁺² gestational weeks with birth weight 2,580 g (<10 percentile), length 47 cm (10-25 percentile), and head circumference 34.5 cm (50-75 percentile). The baby was delivered vaginally from a nulliparous mother. Pregnancy and family histories were nonspecific. Her parents were not consanguineous marriage. Apgar score was 9 at 1 min, 10 at 10 min. Craniofacal characteristics were inverted triangle face, micrognathia, asymmetric face (left face hypoplasia), a narrow nose, relatively short neck with torticollis, blepharophimosis, down slant eye, blue sclera, low-set and hypoplastic ears. Multiple joint contractures (both elbows, fingers, hips and knees), arachnodactyly, camptodactyly, club foot, umbilical hernia, and sacral dimple were noted.
Results: Infantogram and skeletal X-ray showed long slender bones with multiple joint contractures. Cardiac, renal and pelvic sonographic findings were non-specific. Eye and ear examination showed microcornea with shallow anterior chamber and referred hearing test. Chromosomal microarray was non-specific and diagnostic exome sequencing test confirmed autosomal recessive disorder of VDEGS with SCARF2 mutation transmitted by heterozygotic carrier parents. Follow up at 4 months of age, body weight was 5.0 kg(<3 percentile), length 61.7 cm (25-50 percentile), and head circumference 41.0 cm (50-75 percentile), and development was normal.

Conclusions: We report a characteristic radiologic finding of VDEGS patient confirmed by diagnostic exome sequencing who was born to parents with heterozygous carrier. This is the first report in Korea.