Dysmorphology Flashcards
-plasia
describes the the number of cells compared to the norm
-pertrophy
describes the size of the cells compared to the norm
brachydactyly
short fingers
clinodactyly
curved/bent fingers
arachnodactyly
long and thin fingers
syndactyly
joined fingers
camptodactyly
flexion due to bone or ligament abnormalities
preaxial polydactyly
extra finger or toe on thumb/big toe side
postaxial polydactyly
extra finger or toe on the pinky side
hypotelorism
decreased interpupillary distance
hypertelorism
increased interpupillary distance
malformation
morphological abnormality that arises because of an abnormal developmental process
deformation
distortion by physical force of normally programmed structures
disruption
destruction of normally programmed structures or tissues
syndrome
A particular set of developmental anomalies occurring together in a recognizable and consistent pattern and known or assumed to be the result of a single etiology.
pleiotropic birth defects
Abnormalities of more than one organ system in different parts of the embryo or in multiple structures that arise at different times during intrauterine life caused by a gene mutation or a teratogen.
Association
A non-random collection of developmental anomalies not known to represent a sequence or syndrome that are seen together more frequently than expected by chance.
Dysplasia
Abnormal cellular organization within a tissue resulting in structural changes.
Brachycephaly
short head
Dolichocephaly
long head
Plagiocephaly
flat head leading to asymmetrical appearance
supraorbital ridge
basically, eyebrow bones
Synophrys
unibrow
ptosis
low set upper eyelid
Ectropion
lower eyelids turns or sags outward
telecanthus
increased distance between the inner canthi
Ankyloglossia
lingual frenulum tethers the bottom of the tongue’s tip to the floor of the mouth
Saggital
Cut from ventral to dorsal (nose to back of head, vertical plane)
Corronal
cut laterally (ear to ear, vertical plane)
Axial or transverse
magician’s box cut
kyphosis
rounding of back
hypertrichosis
abnormal body hair
dysmorphology of Turner syndrome
pedal edema, short stature, webbed neck, shield chest, renal anomalies, CHD, lack of puberty developments, short 4/5th metacarpals, triangular face, downslanting palpebral fissures, low set ears, gonadal dysgenesis in fetal life, ear infections
dysmorphology of Noonan syndrome
short stature, webbed neck, low posterior hairline, pectus excavatum/carinatum, pulmonic stenosis, septal hypertrophy, Cryptorchidism (undescended testes), ptosis
dysmorphology of Patau syndrome (trisomy 13)
cleft lip and palate, microcephaly, holoprosencephaly, Microphthalmia (small, abnormally shaped eyes), polydactyly, scalp cutis aplasia, clenched fists, seizures, cystic renal disease, neural tube defects, CHD, omphalocele, poly/oligohydramnios
dysmorphology of achondroplasia
broad forehead, flat nasal bridge, trident hands, small foramen magnum (hole at bottom of skull), short stature
dysmorphology down syndrome
hypotonia, depressed nasal bridge, upslanted palpebral fissures, brushfield spots, brachycephaly, loose skin neck folds, small ears, short fingers, 5th clinodactyly, transverse palm crease, thyroid disorders, CHD, small mouth, sandal gap, flat facial profile, developmental delays, hearing loss, Alzheimer disease, males usually infertile
dysmorphology 22q deletion syndrome
AKA DiGeorge, AKA velocardiofacial syndrome, Aortic arch or conotruncal heart defects, neonatal hypocalcemia, thymus hypoplasia/aplasia, cleft palate, Broad nasal root with narrow alar base and bulbous tip
dysmorphology Beckwith-Wiedemann syndrome
macrosomia, omphalocele, macroglossia, hypoglycemia, polycythemia
Fetal Alcohol Syndrome dysmorphology
growth deficiency, microcephaly, short palpebral fissures, smooth philtrum, thin upper lip, hypertonia, CHD, mental deficits
dysmorphology Edwards syndrome (trisomy 18)
prenatal growth deficiency, polyhydramnios, low set malformed ears, micrognathia, short sternum, clenched hands, rocker bottom feet, CHD, renal anomalies, cryptochidism, hypertelorism, microcephaly, hypotonia, seizures, poor suck/swallow, club foot, short palpebral fissures,
dysmorphology Prader Willi syndrome
hypotonia, failure to thrive, obesity, small hands and feet, hypogonadism, almond shaped eyes, narrow bi-frontal diameter
dysmorphology Williams syndrome
blue eyes, prominent lips, hoarse voice, Congenital heart defects to include supravalvular aortic stenosis, periorbital puffiness, friendly, variable mental deficits
dysmorphology Brachmann-de Lange Syndrome (Cornelia de Lange Syndrome)
growth deficiency, synophrys, downturned thin upper lip, intellectual disability
dysmorphology Treacher-Collins syndrome
mandibular hypoplasia, downslanting palpebral fissues, microtia, absence of lower eyelashes, coloboma of lower eyelid, conductive deafness,
dysmorphology Smith-Lemli-Opitz syndrome
growth deficiency, microcephaly, intellectual disability, anteverted nostrils, toe syndactyly, hypospadias, chryptorchidism,
dysmorphology Alagille syndrome
prominent forehead, deepset eyes, pointed chin, hypertelorism, posterior embryotoxon (cornea ridge), vertebral defects, CHD
dysmorphology deletion 5p-Syndrome (Cri du chat)
growth deficiency, microcephaly, mental deficiency, flaccid epiglottis (cat cry), hypertelorism, epicanthal folds,
dysmorphology CHARGE syndrome
coloboma, heart defects, atresia of choanae, retardation of growth and development, genital anomalies, ear anomalies
Klinefelter
47,XXY. Easy, passive babies. less body hair, some gynocomastia, tall. Often not ID’d until adulthood. Maybe treated with testosterone, usually infertile
XXX
taller, normal sexual development and fertility, some learning difficulties,
XYY
taller, normal sexual development and fertility, some learning difficulties,
what leads to cystic hygroma?
collection of lymphatic fluid
most frequent major malformation in Down syndrome
CHD (about 50%)
what valve is between right atrium and right ventricle?
tricuspid valve
what valve is between left atrium and left ventricle?
mitral valve
which side of the heart is usually oxygen poor?
right
diastole
when ventricles are relaxed
systole
when ventricles are contracting
what does a heart murmur indicate?
Turbulent blood flow. ex. stenosis, septal defect, valve regurgitation
ECGs
look at electrical functioning of heart. Can detect blocks and enlargements
Wolf-Parkinson-White syndrome
extra electrical fibers. A loop can be created. Treated with ablation
chest radiography
size of heart and chambers, vessel and organ positions
dextrocardia
heart points to right instead of left
echocardiography
detects structural defects, visualizes blood flow
cardiac catheritization
to get very specific info, for intervention
cardiac conditions that cause increased pulmonary blood flow
VSD, ASD, PDA, AVSD/AV canal
VSD
Ventricular Septal Defect. oxygenated blood “leaking” from LV to RV. Heart has to work harder to provide enough oxygenated blood output
ASD
Atrial Septal Defect. oxygenated blood “leaking” from LA to RA. Heart has to work harder to provide enough oxygenated blood output
PDA
Patent Ductus Arteriosus. oxygenated blood from aorta “leaks” to pulmonary artery
AVSD
Atrioventricular canal defect. opening between ventricles and atriums. oxygenated blood going to pulmonary artery. Common in Down syndrome. One common atrioventricular valve rather than distinct tricuspid and mitral valves
Cardiac obstructive lesions
coarctation of aorta, pulmonary stenosis, hypoplastic left heart
coarctation of aorta
heart works hards, so gets bigger
hypoplastic left heart syndrome
small aorta, vessel connecting pulmonary artery and aorta, underdeveloped left ventricle, opening between atria
cyanotic lesions - two main types
admixture lesions, obstruction to pulmonary flow with intracardiac shunt
admixture lesions
transposition of the great arteries, total anomalous pulmonary venous return, persistent truncus arteriosus
Obstruction to pulmonary flow with intracardiac shunt
tetralogy of fallot, tricuspid atresia, pulmonary atresia, Ebstein’s anomaly
Tetralogy of fallot
VSD, overriding aorta, pulmonary stenosis and RVH
truncus arteriosis
continuous pulmonary artery and aorta, opening between ventricles
transposition of great arteries
aorta connected to right ventricle. pulmonary artery connected to left ventricle. vessel connecting aorta and pulmonary artery
when should you think of connective tissue disorder?
multiple systems, chronic inflammation or pain, frequent fractures, dislocations, long long bones
Systemic Lupus Erythematosus
autoimmune connective tissue disorder, chronic inflammation, mostly female, fatigue, pain, insomnia
osteogenesis imperfecta
collagen CTD, fractures w/o trauma, blue sclera, dentinogenesis imperfecta, hearing loss, short stature. Caused by diminished collagen production or defective collagen.
Loeys-Dietz syndrome
vasculature has tangled characteristics. skeletal elements like scoliosis and joint laxity. Must be diagnosed early to prevent death.
Stickler syndrome
hearing loss, occular symptoms, arthritis, hypermobility
Marfan genes
FBN1 - encodes fibrillin protein for microfibrils. (TGFB?)
dysmorphology of Marfans
tall, thin, sunken cheeks, micrognathia, retinal detachment, stretch marks, hernias, aortic root dilation
Classical Ehlers Danlos symptoms
velvety elastic skin, atrophic scars, joint dislocation, chronic pain, decreased aortic stiffness, slow wound healing
CEDS genes
COL5A1 COL5A2. Auto dominant
Hypermobility EDS
frequent dislocations and bruising, may have underlying vascular abnormality, hypermobile joints, stretchy skin, no test we can do to diagnose, appears to be autosomal dominant
Vascular EDS gene
COL3A1
Vascular EDS
vascular ruptures, thin translucent skin (not elastic), facies, usually diagnosed in 20s, high risk pregnancies, high risk surgery, slow healing
how do we screen for neural tube defects?
maternal serum alpha fetalprotein. opening in spine leaks AFP into amniotic fluid
how much folate should women take daily?
0.4-0.8 mg (400-800ug)
Is SB genetic?
Many genes have been associated with increased risk of SB in initial studies. More folic acid may be helpful
neural tube defects pattern of inheritence
multifactorial
most serious neural tube defect that’s compatible with life
Myelomeningocele
primary classes of problems associated with SB
sensory, motor, and autonomic impairment
problems associated with SB
hydrocephalus, seizures, visual impairment, renal failure, pressure ulcers, chronic pain, latex allergy
functions of the kidney
electrolyte homeostasis, water homeostasis, excretion of metabolic waste, control blood pressure, stimulates bone marrow to make RBCs, production of calcitrol (Vit D), gluconeogenesis
symptoms of glomerular disease
(break down of basement membrane) hematuria, proteinuria, elevated creatinine
bilateral renal agenesis
not compatible with life. fetus undergoes Potter sequence
multicystic dysplastic kidney
tubules do not fully branch out. urine builds up in tubules and cause cysts. often found on prenatal ultrasound
Ureteropelvic Junction Obstruction (UPJO)
partial or complete obstruction of ureter. Can lead to Pelviectasis, hydronephrosis, Vesicoureteral reflux
how do you treat chronic kidney disease?
control blood pressure, change diet, don’t smoke, treat anemia
how do you treat end stage renal disease?
hemodialysis, peritoneal dialysis, kidney transplant
Branchio Oto Renal Syndrome
branchial fistula and cysts, malformations of outer, middle, and/or inner ear, renal malformations (varying severity). autosomal dominant
BORS inheritance and presentation
autosomal dominant, variable expressivity
Meckel syndrome
triad: encephalocele, polycistic kidneys, polydactyly. autosomal recessive
phenocopy (and example)
two distinct reasons that lead to same phenotype (Meckel and trisomy 13)
what is main cause of Meckel syndrome?
renal cystic dysplasia. leads to potter sequence
prune belly syndrome
triad: abdominal wall deficiency, elongated tortuous megaureters, undescended testes
collagen IV related nephropathies
Alport syndrome, Thin Basement Membrane Disease
Alport syndrome
focal nephritis with cochlear and ocular involvement
Alport syndrome inheritance
X linked (80%), auto recessive, auto dominant (different Col IV genes)
diagnostic criteria for Alport syndrome
hematuria, protienuria, hypertension, renal insufficiency
thin basement membrane nephropathy
persistant microscopic hematuria. usually not pathological
autosomal recessive polycystic kidney disease
bilateral microcysts. liver involvement in half of individuals
ARPKD genes
PKHD1
ARPKD mortality
1/3 die in neonatal period. 50% of survivors have ESRD by 10
autosomal dominant polycistic kidney disease
adult onset. Multi system. bilateral renal cysts. cysts in other organs. vascular anomalies.
ADPKD genes
PKD1 and PKD2
ADPKD effects
kidney stones, kidney cyst ruptures, cardiovascular complications, hypertension, liver, pancreatic, ovarian, and splenic cysts, intracranial aneuryisms, colonic diverticula, mitral valve prolapse,
how much folic acid should a woman have daily?
0.4-0.8 mg (400-800ug)
NTD inheritance
multi factorial
Types of Ehler-Danlos
Classic, hypermobility, vascular, kyphoscoliotic, arthrochalasis, dermatosparaxis
kyphoscoliosis ED
auto recessive, PLOD1 mutations, hypotonia, kyphoscoliosis, flexible skin and joints
dermatosparaxis ED
auto recessive, ADAMTS2 mutations, fragile and redundant skin, short
homocystinuria
myopia, marfanoid habitus, scoliosis, thromboembolism, developmental delay, seizures
why do we measure creatinine levels?
tells us about glomerular filtration rate (GFR)
BRAHD
bilateral renal agenesis/hypoplasia/dysplasia. Not compatible with life. Potter sequence.
