Hallermann-Streiff syndrome (HSS) is a very rare congenital disorder associated with characteristic head and face abnormalities include bird-like face, hypotrichosis, atrophy of skin, dental abnormalities, proportionate nanism, and many ophthalmic disorders. Many patients die during infancy because of life-threatening complications, such as respiratory and cardiac problems. Read More

Meeting name: IPR 2016 Conjoint Meeting & Exhibition , 2016

Authors: Choi Young-youn

Keywords: characteristic head and face abnormalities, antenatal sonography, thin tubular bones, widely opened fontanelle with sutures, flattened parietal bone, mid-facial hypoplasia, failure to thrive

Hemangioma occurs mainly in soft tissue but rarely be shown in bone. It is benign vascular bone tumors that account for 1% of all primary bone tumors. It is also called hamartoma because it is proliferating tumor originated from bone tissue. Most prevalent sites of intraosseous hemangioma are vertebrae and skull. Within the calvarium, the parietal bone is most commonly involved followed by the frontal bone. Within the facial skeleton, the mandible, maxilla, and nasal bones are involved. Hemangioma of the maxilla is very rare in newborn period. We experienced a neonatal case of intraosseous hemangioma of the right maxilla treated with embolization in an early infant period. Read More

Meeting name: IPR 2016 Conjoint Meeting & Exhibition , 2016

Authors: Choi Young-youn

Keywords: intraosseous hemangioma, maxilla, embolization, newborn

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. Read More

Meeting name: IPR 2016 Conjoint Meeting & Exhibition , 2016

Authors: Choi Young-youn

Keywords: multiple joint contracture, craniofacial abnormalities, autosomal recessive disorder