Pediatrics

Oral fluoride supplementation for children beginning at 6mo if their drinking water is deficient in fluoride concentration (below....?)

• thin upper lip
• smooth philtrum
• flat nasal bridge
• clinodactyly (curved 5th finger)
• pre & postnatal growth retardation
• small palpebral fissures 
• widened upper palmar crease
• "railroad track" ears

• hypotonia
• flat face
• upward & slanted palpebral fissures & epicanthic folds
• speckled irises (Brushfield spots)
• mental & growth retardation
• dysplasia of the pelvis
• cardiac malformations (VSD, edocardial cushion defects)
• simian crease
• short broad hands
• hypoplasia of the middle phalanx of the 5th finger
• high arched palate

• severe hypotonia at birth
• obesity
• short stature (responsive to growth hormone)
• small hands & feet
• hypogonadism
• mental retardation

• pectus carinatum/pectus excavatum
• arm span to height ration >1.05
• + wrist & thumb sign
• limited elbow extension
• pes planus
• aortic ascendens dilatation +/- aortic regurgitation

Glycogen storage disease Type II

Due to deficiency of lysosomal alpha-1, 4-glucosidase (acid maltase)

Causes cardiomegaly, trashes liver & muscle, leading to early death

autosomal recessive