Diagnosis: Osteogenesis Imperfecta Type II

History: 38+4 week old fetal male born by C-section due to breech presentation to 25yo F G2P0010 Maternal labs neg

Findings: Osseous structures demonstrate diffuse osteopenia, which is markedly noted in the skull. There are multiple fractures within the axial and appendicular skeleton, to include multiple rib fractures and multiple fractures of the humeri and femora. The long bones of the extremities are crumpled and demonstrate bowing deformity with a characteristic accordian appearance. The pelvis is significant for flattening of the acetabula and iliac wings. Evaluation of the spine demonstrates multiple compression fractures of the vertebral bodies, which are decreased in height. Umbilical artery and vein central catheters are present.

Ddx: • Osteogenesis Imperfecta • Immobilization • Premature Birth • Vitamin D Deficiency (Rickets) • Osteomalacia • Hematological Diseases • Child Abuse Other rare skeletal syndromes

Dxhow: Radiography

Exam: APGARS 2, 4, 4 (apneic, cyanotic, flaccid, bradycardic) W: 2.2kg L: 40cm HC: 31cm = SGA Exam: HEENT: crepitus over scalp, large gaping sutures Resp: Widely spaced nipples, apnea CV: sinus brady, poor perfusion ABD: soft, ND Neuro: depressed mental state, poor tone Ext: multiple extremity anomolies-discordant leg length, bowing of lower ext Skin: severe bruising and cyanosis Labs: Chromosomes and Microarray neg; no other pertinent labs