Cranium
Brachycephaly - short AP head diameter
(measure inter-parietal bns distance / distance bn glabella and occiput)
Dolichocephaly - long AP head diameter
( " " " "...)
Scaphocephaly - a subtype w pointed ant and post aspects, boat shaped head
Macrocephaly - enlarged head circ >97th %ile
Microcephaly - reduced head circ <3rd %ile
Flat Occiput - reduced occiput convexity
Prominent Occiput - increased occiput convexity
Plagiocephaly - asymmetric head shape- usually bc of unilat occipital flattening w ipsilat frontal prominence --> rhomboid cranial shape
Cloverleaf Skull - trilobar skull if viewed fr front or behind
Trigoncephaly - wedged-shaped, triangle shaped - apex at forehead
Turricephaly - tall head relative to width & length
Scalp Hair
Frontal Upsweep of Hair - aka Cowlick (no longer used) - upward and/or sideward ant hair growth
Abnormal Hair Whorl Number - >2 clockwise hair whorls; most ppl hae one clockwise hair whorls, at a single pt on scalp, lat to midline but near the vertex of the skull. %5 of ppl have 2 whorls. 10% of ppl have counterclockwise whorls.
Double Crown - Abnormal position of hair whorl- growth from a single pt on scalp in any other location than above; can be parietal, vertex, eccentric, nor abNl # of whorls
Frontal Balding - no hair at ant midline +/- parietal areas
High Anterior Hairline - >2 standard deviations above mean distance bn hairline and glabella
Low Anterior Hairline - >2 standard dev below ...
Low Posterior Hairline - often seen in later childhood, as neck lengthens in pts w who have redundant neck skin
Sparse Scalp Hair - decreased number of hairs
Widow's peak - frontal hairline has bilat arcs to form a low pt in the forehead midline
-might need to pull hair back to see it
Face
Broad Face - upper and lower face width >2SD above mean
Course Face - no fine/sharp appearance of brows, nose, lips, mouth, chin - bc of rounded and heavy features or thickened skin +/- thickening of subQ and bony tissues
Expressionless Face - reduced facial movement --> reduced crease formation
Flat Face - absence of concavity or convexity of the face when viewed in profile
-imagine a line connecting glabella to ant most part of mandible touches the top of the philtrum where it meets teh base of the columella. The glabella is the most prominent pt of the frontal bn above the root of the nose, the sup philtrum is ant to this line in a convex face and post to the line in a concave face
Long Face - height >2SD above mean
Short Face - height >2SD below mean
Narrow Face - upper and lower face >2SD below mean
Round Face - more circular than usual when viewed fr front
Square Face - in frontal vivews, face has a broad upper face/cranium and lower face/mandible--> square
-ddx broad jaw- jaw is broader than forehead
Triangular Face - triangle from frontal view, w broad head at temples, narrows to chin...
Forehead
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Amniocentesis
-drawn at___ for___
Chorionic Villus Sampling
-drawn at __ for ___
FISH- fluorescence in situ hybridization - localize a cloned segment of DNA on a chromosome by binding complementary DNA and then visualizing it's location with flurorescence microscopy
Microarray- grid of multiple DNA fragments fixed to a glass slide for hybridization to test sequence
Comparitive genomic hybridization - take a control and reference DNA sample, and competitively hybridize them to a reference sequence--> detects deletions or duplications
Complex Segregration Analysis - analyze the pattern of genetic transmission by testing various models to explain the dataset, and establish a best fit model (of transmission)