Table 1.
Findings | Our case | Spear et al. | Engellenner et al. | Seller et al. | Berkenstadt et al. | |
---|---|---|---|---|---|---|
Number of cases | 1 | 1 | 1 | 2 | 1 | |
Gender | M | M | F | M | F | M |
Anophthalmia/microphthalmia | Bil | Bil | Right eye | Bil | Bil | Bil |
Pulmonary agenesis/dysgenesis/hypoplasia | Left hypoplasia | Bil | Bil | Dysgenesis | Bil Hypoplasia | Right agenesis |
Diaphragmatic eventration/hernia | Left eventration | Left Event. | – | – | – | Right hernia |
Cardiac anomalies | PDA + ASD Dilated RA + RV | VSD, absent ductus arteriosus, Overriding aorta | Dilated RA | – | Single ventricle, Hypoplastic LA | – |
Pulmonary vascular abnormalities | N | Absent pul vessles | Absent pul vessels | –- | Enlarged Pul trunk | Absent pul vessels |
Karyotype | 46, XY | 46, XY | 46, XX | 46, XY | 46, XX | 46, XY |
Familial/sporadic | Sporadic | Sporadic | Sporadic | Familial | Sporadic |
Findings | Pierson et al. | Steiner et al. | Priolo et al. | Lee et al. | Li and Wei | |
---|---|---|---|---|---|---|
Number of cases | 1 | 2 | 1 | 1 | 1 | |
Gender | F | F | M | M | F | F |
Anophthalmia/microphthalmia | Bil | Cornneal cloudign | Bil | Bil | Bil | Bil |
Pulmonary agenesis/dysgenesis/hypoplasia | Bil hypoplasia | Normal | Bil hypoplasia | Bil hypoplasia | Bil Hypoplasia | Bil hypoplasia |
Diaphragmatic eventration/hernia | Left hernia | Bilateral eventration | Left hernia | Left hernia | – | |
Cardiac anomalies | Bil Ventricular Hypertrophy | – | ASD, severe RVH | ASD | – | Dilated RA + RV |
Pulmonary vascular abnormalities | Dilated pul arteries | – | – | – | – | Small 2 pul Veins |
Karyotype | 46, XX | 46, XX | 46, XY | 46, XY | 46, XX | 46, XX |
Familial/sporadic | Sporadic | Sporadic | Sporadic | Sporadic | Sporadic | Sporadic |