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.

Infant Body Composition in an Asian Pacific Islander Population.

BACKGROUND: Normative infant body composition data using air displacement plethysmography (ADP) are from primarily Caucasian populations. Racial differences may exist. OBJECTIVES: To describe body composition in Asian and Pacific Islander infants and compare them to previously published data on Caucasian infants. DESIGN: Body composition was measured using ADP with the PEA POD® Infant Body Composition System in 249 healthy full-term newborns in a predominately Asian and Pacific Islander population in Hawaii within the first 3 days of life and compared to published data on Caucasian infants with multiple t-tests adjusted for false discovery rate. RESULTS: There were no differences in percent body fat between Asian, Pacific Islander, or mixed race Asian Pacific Islander infants. Both Asian and Pacific Islander infants had significantly higher percent body fat than Caucasians from Italy in Europe (13.2% and 11.8% vs 8.9%, p < 0.01 among males, 15.3% and 15.6% vs 8.7%, p < 0.01 among females) but not when compared to Caucasians from New York. CONCLUSIONS: Racial and geographical differences in body composition exist at birth between Asian and Pacific Islanders and other Caucasian cohorts. Previously published ADP nomograms must be interpreted with caution. Future studies are needed to investigate the impact of environmental, perinatal, and genetic factors on infant body composition and its relationship to future cardiometabolic morbidity. Efforts to address racial disparities in cardiometabolic disease measures must also address pre-conceptual maternal health, which may have long-term implications on future body composition in offspring.