Case 4-2017. A 2-Month-Old Girl with Growth Retardation and Respiratory Failure

N Engl J Med. 2017 Feb 9;376(6):562-574. doi: 10.1056/NEJMcpc1613465.

Authors

T Bernard Kinane¹, Angela E Lin¹, Manuella Lahoud-Rahme¹, Sjirk J Westra¹, Eugene J Mark¹

Affiliation

¹ 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.

PMID: 28177866
DOI: 10.1056/NEJMcpc1613465

No abstract available

Publication types

Case Reports
Clinical Conference

MeSH terms

Abnormalities, Multiple
Brain / diagnostic imaging
Diagnosis, Differential
Echocardiography
Failure to Thrive / etiology
Female
Filamins / genetics*
Genetic Diseases, X-Linked
Growth Disorders / etiology
Heart / diagnostic imaging
Heart Defects, Congenital / diagnostic imaging
Hemangioma / complications
Hemangioma / diagnosis
Humans
Infant
Lung / diagnostic imaging
Magnetic Resonance Imaging
Male
Mutation
Pedigree
Periventricular Nodular Heterotopia / complications
Periventricular Nodular Heterotopia / diagnosis*
Periventricular Nodular Heterotopia / genetics
Radiography, Thoracic
Respiratory Insufficiency / etiology

Substances

FLNA protein, human
Filamins