Focal dermal hypoplasia (Goltz Syndrome): A preterm neonate with multisystem anomalies—A case report
| Autor: | Abdikarin Ahmed Mohamed, Hindeya Hailu Hagos, Dawit Seyoum, Amanuel Hadgu |
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| Jazyk: | angličtina |
| Rok vydání: | 2024 |
| Předmět: | |
| Zdroj: | SAGE Open Medical Case Reports, Vol 12 (2024) |
| Druh dokumentu: | article |
| ISSN: | 2050-313X 2050313X |
| DOI: | 10.1177/2050313X241274981 |
| Popis: | Goltz syndrome is a rare condition characterized by thinning of the skin, which leads to the herniation of fat and results in both skin and systemic abnormalities. The primary cause of this syndrome is the mutation of the PORCN gene, which is associated with the X chromosome. A newborn baby was admitted to the neonatal intensive care unit due to skeletal and skin abnormalities. The major findings in this patient included anophthalmia, microform cleft lip, subcutaneous fat herniation, and split foot. An abdominal ultrasound examination revealed a solitary right kidney and an echocardiogram showed patent ductus arteriosus. The patient was treated for neonatal sepsis, and the family received counseling about the disease. We report this case because of its exceptional rarity. |
| Databáze: | Directory of Open Access Journals |
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