Visual Diagnosis: 9-month-old Boy with Coarse Facial Features and Hepatosplenomegaly
| Autor: | Michael S L Ching, Jennifer Myaeng, Veronica J. Rooks |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Male Pediatrics medicine.medical_specialty Hepatosplenomegaly Physical examination Craniofacial Abnormalities 03 medical and health sciences Fatal Outcome Mucolipidoses medicine Macroglossia Humans Hernia Medical history Family history medicine.diagnostic_test business.industry Infant medicine.disease Inguinal hernia 030104 developmental biology Abdominal examination Pediatrics Perinatology and Child Health Splenomegaly medicine.symptom business Hepatomegaly |
| Zdroj: | Pediatrics in review. 38(4) |
| ISSN: | 1526-3347 |
| Popis: | 1. Jennifer Myaeng, DO* 2. Michael S. L. Ching, MD* 3. Veronica J. Rooks, MD* 1. *Tripler Army Medical Center – Pediatrics, Honolulu, HI A 9-month-old boy presents to the emergency department with fever, congestion, cough, and respiratory distress. He is admitted to the inpatient unit for further management. Previous medical history includes developmental delay, failure to thrive, bilateral inguinal hernia repairs, and an earlier hospitalization for respiratory illness. During the hospital course of his hernia repairs at age 3 months, a chest radiograph revealed widened ribs, but no other physical stigmata were noted. The newborn screen, including evaluation for congenital hypothyroidism, yielded normal results. There is no reported family history of birth defects, chromosomal anomalies, learning disabilities, or genetic conditions on either side of the family. His father has a maternal cousin whose child died of an unknown disorder. The family lives in Guam and is primarily indigenous Chamorro in ancestry from both sides of the family. On physical examination, the patient fixes on and follows faces and displays a social smile. His head is plagiocephalic and demonstrates craniosynostosis. He has coarse facial features, including thick eyebrows, epicanthal folds, anteverted nares, broad nasal bridge, and macroglossia (Fig 1). His corneas are clear. Abdominal examination reveals palpable hepatosplenomegaly and genitourinary examination demonstrates a reducible left inguinal hernia. His lower extremities are hypotonic and … |
| Databáze: | OpenAIRE |
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