Case 4-2017. A 2-Month-Old Girl with Growth Retardation and Respiratory Failure.
From the Departments of Pediatrics (T.B.K., A.E.L.), Cardiology (M.L.-R.), Radiology (S.J.W.), and Pathology (E.J.M.), Massachusetts General Hospital, and the Departments of Pediatrics (T.B.K., A.E.L.), Cardiology (M.L.-R.), Radiology (S.J.W.), and Pathology (E.J.M.), Harvard Medical School - both in Boston.
T Bernard
TB
Kinane
From the Departments of Pediatrics (T.B.K., A.E.L.), Cardiology (M.L.-R.), Radiology (S.J.W.), and Pathology (E.J.M.), Massachusetts General Hospital, and the Departments of Pediatrics (T.B.K., A.E.L.), Cardiology (M.L.-R.), Radiology (S.J.W.), and Pathology (E.J.M.), Harvard Medical School - both in Boston.
Angela E
AE
Lin
From the Departments of Pediatrics (T.B.K., A.E.L.), Cardiology (M.L.-R.), Radiology (S.J.W.), and Pathology (E.J.M.), Massachusetts General Hospital, and the Departments of Pediatrics (T.B.K., A.E.L.), Cardiology (M.L.-R.), Radiology (S.J.W.), and Pathology (E.J.M.), Harvard Medical School - both in Boston.
Manuella
M
Lahoud-Rahme
From the Departments of Pediatrics (T.B.K., A.E.L.), Cardiology (M.L.-R.), Radiology (S.J.W.), and Pathology (E.J.M.), Massachusetts General Hospital, and the Departments of Pediatrics (T.B.K., A.E.L.), Cardiology (M.L.-R.), Radiology (S.J.W.), and Pathology (E.J.M.), Harvard Medical School - both in Boston.
Sjirk J
SJ
Westra
From the Departments of Pediatrics (T.B.K., A.E.L.), Cardiology (M.L.-R.), Radiology (S.J.W.), and Pathology (E.J.M.), Massachusetts General Hospital, and the Departments of Pediatrics (T.B.K., A.E.L.), Cardiology (M.L.-R.), Radiology (S.J.W.), and Pathology (E.J.M.), Harvard Medical School - both in Boston.
Eugene J
EJ
Mark
D000015:Abnormalities, Multiple; D001921:Brain / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D004452:Echocardiography; D005183:Failure to Thrive / Q000209:etiology; D005260:Female; D064448:Filamins / Q000235:genetics*; D040181:Genetic Diseases, X-Linked; D006130:Growth Disorders / Q000209:etiology; D006321:Heart / Q000000981:diagnostic imaging; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging; D006391:Hemangioma / Q000150:complications / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008168:Lung / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010375:Pedigree; D054091:Periventricular Nodular Heterotopia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D013902:Radiography, Thoracic; D012131:Respiratory Insufficiency / Q000209:etiology
C578663:FLNA protein, human; D064448:Filamins