18 March 2019 : Case report
Microphthalmia Syndrome 9: Case Report of a Newborn Baby with Pulmonary Hypoplasia, Diaphragmatic Eventration, Microphthalmia, Cardiac Defect and Severe Primary Pulmonary Hypertension
Congenital defects / diseasesAbdurahman A. Andijani1ABEFG, Eman S. Shajira2A, Amani Abushaheen3A, Abdulrahman Al-Matary1AE*
Am J Case Rep 2019; 20:354-360
BACKGROUND: The pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect (PDAC) syndrome is a rare medical condition presumably of autosomal recessive way of inheritance with only a few reported cases. Recessive mutations in the STRA6 and both recessive and dominant mutations in RARB gene have been identified as the cause of anophthalmia/microphthalmia and other abnormalities included in the PDAC spectrum. However, those mutations have not been found in all PDAC syndrome cases reviewed from the literature.
CASE REPORT: We report a case of a full-term living male infant with pulmonary hypoplasia, left diaphragmatic eventration, bilateral microphthalmia, congenital cardiac defects, and severe pulmonary hypertension.
CONCLUSIONS: The main feature in the reported cases was anophthalmia/microphthalmia. Therefore, screening for the other associated congenital anomalies is highly suggested. Mutations in STRA6 and RARB genes are commonly encountered in this spectrum. However, whole exome sequencing of suspected cases and their parents is recommended to detect possible de novo mutations. Further reports are needed to identify risk factors and prognosis of this rare syndrome.
Keywords: anophthalmos, Diaphragmatic Eventration, Heart Defects, Congenital, Lung Diseases, Infant, Newborn, Microphthalmos
04 July 2022 : Case reportInterleukin-6 Is a Promising Marker of COVID-19 in Children: A Case Series of 2 Brothers with Severe COVID-...
Am J Case Rep In Press; DOI: 10.12659/AJCR.934468
29 June 2022 : Case reportA Clinical Case of COVID-19 Vaccine-Associated Guillain-Barré Syndrome
Am J Case Rep In Press; DOI: 10.12659/AJCR.936896
16 June 2022 : Case reportMultidrug-Resistant Klebsiella pneumoniae in a Patient with SARS-Cov-2 Pneumonia in an Intensive Care Unit ...
Am J Case Rep In Press; DOI: 10.12659/AJCR.936498
05 Jul 2022 : Case reportOsteolytic Lesion of the Maxilla in an Undiagnosed Multiple Myeloma Patient Identified Incidentally by Cone...
Am J Case Rep In Press; DOI: 10.12659/AJCR.936585
05 Jul 2022 : Case reportHistiocytic Disorder Mimicking a Brain Tumor: A Report of 2 Rare Cases
Am J Case Rep In Press; DOI: 10.12659/AJCR.935885
05 Jul 2022 : Case reportSolitary Soft-Tissue Metastasis of a Pancreatic Adenocarcinoma 2 Years After Curative Resection: Report of ...
Am J Case Rep In Press; DOI: 10.12659/AJCR.934951
Most Viewed Current Articles
23 Feb 2022 : Case reportPenile Necrosis Associated with Local Intravenous Injection of Cocaine
Am J Case Rep 2022; 23:e935250
17 Feb 2022 : Case reportMyocarditis, Pulmonary Hemorrhage, and Extensive Myositis with Rhabdomyolysis 12 Days After First Dose of P...
Am J Case Rep 2022; 23:e934399
06 Dec 2021 : Case reportLipedema Can Be Treated Non-Surgically: A Report of 5 Cases
Am J Case Rep 2021; 22:e934406