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 / diseases
Abdurahman A. Andijani1ABEFG, Eman S. Shajira2A, Amani Abushaheen3A, Abdulrahman Al-Matary1AE*DOI: 10.12659/AJCR.912873
Am J Case Rep 2019; 20:354-360
Abstract
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
In Press
12 Feb 2024 : Case report
Erdheim-Chester Disease Occult on Radiographs and CT but Visible on MRI and PETAm J Case Rep In Press; DOI: 10.12659/AJCR.941169
12 Feb 2024 : Case report
Surgical Treatment of Spontaneous Superficial Temporal Artery Arteriovenous Malformation: A Case ReportAm J Case Rep In Press; DOI: 10.12659/AJCR.942839
13 Feb 2024 : Case report
Warfarin Woes: A Rare Case of Hemoperitoneum with Intramural Small Bowel HematomaAm J Case Rep In Press; DOI: 10.12659/AJCR.943519
13 Feb 2024 : Case report
Hemorrhagic Presentation in Primary Central Nervous System Lymphoma: A Case StudyAm J Case Rep In Press; DOI: 10.12659/AJCR.942951
Most Viewed Current Articles
07 Mar 2024 : Case report
Neurocysticercosis Presenting as Migraine in the United StatesDOI :10.12659/AJCR.943133
Am J Case Rep 2024; 25:e943133
10 Jan 2022 : Case report
A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...DOI :10.12659/AJCR.935263
Am J Case Rep 2022; 23:e935263
19 Jul 2022 : Case report
Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19DOI :10.12659/AJCR.936128
Am J Case Rep 2022; 23:e936128
23 Feb 2022 : Case report
Penile Necrosis Associated with Local Intravenous Injection of CocaineDOI :10.12659/AJCR.935250
Am J Case Rep 2022; 23:e935250