Fetal Warfarin Syndrome – a case report

A two-month-old male infant presented with history of respiratory difficulty and got admitted with provisional diagnosis of pneumonia. On examination patient was having unilateral nasal hypoplasia and cyanosis with echocardiography showing truncus arteriosus. Detail history revealed that mother had valve replacement and she was taking warfarin during pregnancy. After initial management patient was referred to pediatric cardiac surgery and plastic surgery for further management. Parents were counseled regarding contraception and family planning.

A case of acrodysostosis: a rare primary bone dysplasia

Acrodysostosis is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis and nasal hypoplasia. Diagnostic approach to this disorder is based on clinical, radiological and hormonal assays. We present a case of 11-year-old female child who presented with the complaint of short stubby hands and feet since birth and facial dysmorphism. Her skeletal survey revealed typical radiographic features of acrodysostosis. Hormonal assays did not reveal any significant abnormality. In this case report, we would like to highlight the clinical and radiological features of this disorder which could be helpful in diagnosis of this rare disease.

Vitamin K Deficiency Embryopathy from Hyperemesis Gravidarum

A 21-year-old primigravida had a pregnancy complicated by hyperemesis gravidarum (HG) beginning at 7-week gestation. Despite medical therapy, she lost 18% of her prepregnancy weight. Early ultrasound at 14 weeks demonstrated a flattened facial profile with nasal hypoplasia (Binder phenotype) consistent with vitamin K deficiency from HG. She had a percutaneous endoscopic gastrojejunostomy tube placed for enteral feeding at 15-week gestation. At repeated anatomy ultrasound at 21-week gestation, delivery, and postnatal pediatric genetics exam, nasal hypoplasia was consistent with vitamin K deficiency embryopathy from HG. Nausea and vomiting of pregnancy is a common condition. HG, the most severe form, has many maternal and fetal effects. Evaluation of vitamin K status could potentially prevent this rare and disfiguring embryopathy.