The perinatal presentation of cardiofaciocutaneous syndrome.
There is limited information available related to the perinatal course of cardiofaciocutaneous syndrome (CFC) compared to other syndromes within the Ras-MAP kinase pathway (rasopathies) such as Noonan and Costello syndrome. Retrospective chart review revealed four cases of CFC with molecular confirmation between 2005 and 2012 at Hawaii's largest obstetric and pediatric referral center. We report on details of the prenatal, neonatal, and infancy course and long-term follow-up beyond infancy in two patients. This report includes novel features including systemic hypertension, hyponatremia, and chronic respiratory insufficiency, not previously reported in CFC. We provide pathologic diagnosis of loose anagen hair in one patient. Some of these findings have been reported in the other rasopathies, documenting further clinical overlap among these conditions. Molecular testing can be useful to differentiate CFC from other rasopathies and in counseling families about potential complications and prognosis. We recommend a full phenotypic evaluation including echocardiogram, renal ultrasound, brain imaging, and ophthalmology examination. We additionally recommend close follow-up of blood pressure, pulmonary function, and monitoring for electrolyte disturbance and extra-vascular fluid shifts.
Department of Pediatrics, University of Hawaii, Honolulu, Hawaii.
Kara N
KN
Wong Ramsey
Matthew H
MH
Loichinger
Thomas P
TP
Slavin
Sheree
S
Kuo
Laurie H
LH
Seaver
D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D019066:Facies; D005183:Failure to Thrive / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D005260:Female; D005865:Gestational Age; D006197:Hair / Q000473:pathology; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D048370:MAP Kinase Kinase 2 / Q000235:genetics; D008297:Male; D009154:Mutation; D010641:Phenotype; D012867:Skin / Q000473:pathology
D048370:MAP Kinase Kinase 2
BRAF; MAP2K1; MAP2K2; Ras-MAP kinase; cardiofaciocutaneous syndrome (CFC); hypertension; hyponatremia; loose anagen hair; neonatal; perinatal; pleural effusion; rasopathies; respiratory complication