differential ddx

NON IMMUNE HYDROPS FETALIS. G2 A1 /ML 2 yrs /non consanguinous marriage /had regular ANC. Antenatal profile normal.scan at 7 weeks and 14 weeks normal.tiffa scan at 24 weeks diagnosed as non immune hydrops fetalis. labour induced and patient delivered a dead female baby with generalised edema,low set ears. HYDROPS FETALIS is abnormal fluid collections in fetal soft tissues and serous cavities. IMMUNE HYDROPS /ERYTHROBLASTOSIS FETALIS occurs when mother's immune system attacks the blood cells of the baby.a RH NEGATIVE mother carrying a baby of RH POSITIVE blood type may have an immune response that attacks and destroys the RH positive blood cells of the baby. NON IMMUNE HYDROPS FETALIS /NIHF is a clinical phenotype associated with a broad spectrum of causes. CAUSES OF NIHF: 1)FETAL CAUSES. *cardiac defects like -hypoplastic left /right heart. -atrioventricular septal defects. -aortic stenosis /atresia. -pulmonary stenosis /atresia. -tetralogy of fallot. -premature closure of ductus. -svt/àtrial flutter /heart block. -chromosomal abnormalities . trisomy 13, 18, 21. turner's syndrome. -skeletal dysplasia. -feto maternal hemorrhage. -hematological abnormalities. -diaphragmatic hernia. -broncho pulmonary sequestration. -congenital cystic adenomatoid malformation. -oesophageal /intestinal atresia. -Polycystic kidneys. -fetal tumours like neuroblastoma, sacrococygeal teratoma. TWINS RELATED. * TTTS /twin to Twin Transfusion syndrome. * TRAPS /twin reversed arterial perfusion sequence. GENETIC SYNDROMES. * multiple pterygium. * noonan syndrome. * cornelia de LANGE SYNDROME. * tuberous sclerosis. * myo tonic dystrophy. * neu -laxava syndrome. MATERNAL CAUSES. * anemia. * diabetes. * indomethacin use. *maternal infections like -TORCH group -Parvo virus B 19 infection (commonest ) *coxsackie viral infection. PLACENTAL /CORD CAUSES. * chorioangioma. * angiomyxoma of cord. * chorionic vein thrombosis. METABOLIC CAUSES. * mucopolysaccharidosis type VII (sly disease ) and type IV A (morquio A syndrome. * gaucher's disease. type 2 * sialidosis. * GM 1 gangliosidosis. * galactosialidosis. * Niemañn-pick disease . type C * disseminated lipogranulomatosis/farber disease. * infantile free silicone acid storage /ISSD. * mucolipidosis II (I -cell disease. fetal hydrops associated with metabolic disorders is usually severe hydrops with massive ascites, thick skin,coarse faces, contracture deformities,skeletal abnormalities, hepatosplenomegaly and renal abnormalities. the classic diagnosis of a metabolic disorder is done by measuring the level of the specific enzyme. like *beta glucuronidase deficiency in mucopolysaccharidosis type VII. * beta -galactosidase deficiency in GM 1 gangliosidosis. * histological examination of various tissues like liver, spleen, lungs, bone marrow and placenta. ULTRASOUND FEATURES. *polyhydramnios. * increased nuchal translucency. * increased placental size and thickness. * Fetal pleural /pericardial effusion. * anasarca and skin thickening. * umbilical venous dilatation. INVESTIGATIONS : are multiple. * ultrasound including arterial and venous doppler. * Fetal echocardiography. *fetal chromosome analysis. * Fetal blood sampling and intrauterine transfusions. * investigations for maternal and fetal infections. * see for alpha thalassemia. * autopsy . TREATMENT : treatment depends on the cause. * early delivery. *intra uterine fetal blood Transfusion. * removing extra fluid around the lungs /other organs. * medications to control heart failure and help the kidneys remove extra fluids. *

The child presented with these typical physical features. Please spot the diagnosis

12 year old girl with normal intelligence,, diagnosis?????

I saw this case in my paediatric ward....Could anyone diagnose and can identify the clinical presentation of this case??

27 yr old male presented with complaint of breathlessness and cough with expectoration from last 1month and chest pain from last 10 days.Patient took AAT for 9 months last yr. He has history of recurrent pnemonia since childhood. ECG and X-ray attached.