Ch 10 - Peds: Genetics and Milestones Flashcards
What are signs of Trisomy 21 (Down syndrome)?
Upward slant of palpebral fissures Brushfield spots of iris Protruding tongue 3rd fontanelle Low-set auricles Excess nuchal skin Single palmar (simian) crease Single flexion crease and incurving (clinodactyly) of 5fth fingers Inc distance b/w 1st and 2nd toes Mottling of skin Hypotonia, CHD such as endocardial cushion defect, ventricular septal and VSD
What are signs of Trisomy 18 (Edward’s syndrome)?
IUGR Short palpebral fissures Small mouth Micrognathia Low-set ABN auricles Prominent occiput Short sternum 2nd digit overlapping 3rd and 4th over 4th Hypoplastic fingernails Rocker-bottom feet CHD Spasticity Feeding problems/ failure to thrive
What are signs of Trisomy 13 (Patu’s syndrome)?
IUGR in all 3 parameters Coloboma of iris (pupil of keyhole shape) Capillary hemangioma Skin defect of skull Hyperconvex nails Polydactyly Rocker-bottom feet Arrhinencephaly Cleft lip and palate CHD Urinary tract ABN
What are signs of Turner’ syndrome (45,X)?
Short stature Triangular face ABN shape of ears Webbed neck Broad “shield” chest Wide-set nipples Congenital lymphedema of hands and feet Shortened 4th and 5th metacarpals and metatarsals Cubitus valgus Primary amenorrhea CHD especially coarctation of aorta Mostly normal IQ Infertility
What are signs of Klinefelter’s syndrome (47,XXY)?
Tall stature Post-pubertally small testicles Gynecomastia Eunuchoid build Inc risk for mild MR Learning and behavior problems Infertility
What prenatal diagnostic tests are included at 14-16 weeks pregnancy?
Amniocentesis
What prenatal diagnostic tests are included at 9-10 weeks pregnancy?
Chorionic villi sampling
What are the TORCHES infections?
Toxoplasmosis Other agents such as varicella virus or parvovirus Rubella virus, Cytomegalovirus Herpes virus/HIV Syphilis
When do the biggest changes in bone mass occur?
Girls: 12 to 15 yo
Boys: 14 to 17 yo
What are the earliest markers of abnormal neurological maturation?
Obligatory or persistent primitive reflexes
What are Gross Motor Milestones seen in Newborns?
Flexor tone predominates
In prone, turns head to side
Automatic reflex walking
Rounded spine when held sitting
What are Fine Motor Milestones seen in Newborns?
Hands fisted
Grasp reflex
State-dependent ability to fix and follow bright object
What are Personal/Social Milestones seen in Newborns?
Habituation and some control of state
What are Speech and language Milestones seen in Newborns?
Cry
State-dependent quieting and head turning to rattle or voice
What are Cognitive Milestones seen in Newborns?
Sensorimotor 0 to 24months
Reflex stage
What are Emotional Milestones seen in Newborns?
Basic trust versus basic mistrust (firstyear)
Normal symbiotic phase—does not differentiate self and mother
What are Gross Motor Milestones seen at 4 Months?
Head midline
Head held when pulled to sit
In prone position, lifts head to 90° and lifts chest slightly
Turns to supine
What are Fine Motor Milestones seen at 4 Months?
Hands mostly open Midline hand play Crude palmar grasp Fascinated by own face in mirror
What are Personal/Social Milestones seen at 4 Months?
Recognizes bottle
What are Speech and language Milestones seen at 4 Months?
Turns to voice and bell consistently
Laughs, squeals Responsive vocalization Blows bubbles, “raspberries”
What are Cognitive Milestones seen at 4 Months?
Circular reaction, the interesting result of an action motivates its repetition
What are Emotional Milestones seen at 4 Months?
Lap baby, developing a sense of basic trust
What are Gross Motor Milestones seen at 7 Months?
Maintains sitting May lean on arms Rolls to prone Bears all weight, bounces when held erect Cervical lordosis
What are Fine Motor Milestones seen at 7 Months?
Intermediate grasp Transfers cube from hand to hand
Bangs objects
What are Personal/Social Milestones seen at 7 Months?
Differentiates between familiar person and stranger
Holds bottle
Looks for dropped object
Talks to mirror image
What are Speech and language Milestones seen at 7 Months?
Uses single-word and double-consonant vowel combinations
What are Emotional Milestones seen at 7 Months?
At 5 months begins to differentiate mother and self— individualization Sense of belonging to a central person
What are Gross Motor Milestones seen at 10 Months?
Creeps on all fours Pivots in sitting
Stands momentarily, cruises
Slight bow leg Increased lumbar lordosis, acute lumbosacral angulation