Genetic & Dysmorphology Flashcards
Edward’s syndrome
- trisomy 18
- many spontaneous abortions or don’t live past 1YO
- mental retardation
- rocker bottom feet
- omphalocele
- VSD, ASD, PDA
- low set, malformed ears
- microcephaly, micrgnathia, short sternum
Down syndrome sx
- mental retardation
- ALL
- early onset Alzheimer’s
- atlantoaxial instability
- duodenal atresia
- hypotonia
- hearing loss
- endocardial cushion defect > PDA, ASD, MVP
- upward slanting palpebral fissures
- epicanthial folds
Patau syndrome
-trisomy 13
- holoproencephaly, CNS defects
- severe mental retardation
- microcephaly, microphthalmia
- cleft lip, palate
- cutis aplasia
- post axial polydactyly
- VSD, ASD, PDA
WAGR syndrome
Wilms’ tumor
Aniridia
GU abnormality
Retardation
Klinefelter syndrome px, tx
- XXY
- mental retardation
- behavioral problems
- long limbs, slim
- hypgonadism, hypogenitalism –> hypergonadotrophic hypogonadism = inc FSH, LH and low testosterone
-tx: testosterone replacement at 11-12YO
Turner syndrome
- XO
- small stature female
- streak ovaries
- congenital lymphedema –> puffiness in fingers & toes
- broad chest, wide spaced nipples
- low posterior hairline, webbed posterior neck
- horseshoe kidney
- bicuspid aortic valve, coarctation, HTN
-tx: estrogen, growth hormone, anabolic steroids
Fragile X Syndrome
- MCC of inherited mental retardation in males
- large ears, jaw, face, balls (macroorchidism)
- dysmorphic face
Beckwith-Wiedemann Syndrome
- IGF2 gene disruption –> affected fetal growth factor
- macrosomia, macroglossia, hemihypertrophy
- pancreatic beta cell hyperplasia –> hypoglycemia
-ultrasounds & AFP to monitor for Wilms’ tumor & hepatoblastoma
Prader-Willi Syndrome
- paternal chromosome 15 imprinting
- obesity + small genitals
- food related behavior problems, binge eating
- hypogonadotrophic hypogonasism
- mental retardation
-fat, mad, dumb, hungry, small peepers
Angelman Syndrome
happy puppet syndrome
- maternal chromosome 15 imprinting
- severe MR
- inappropriate laughter
- absent speech
- ataxia, jerky arm movements (resembling a puppet)
-happy, laugh not speak, puppet
Robin sequence
mandibular hypoplasia –> micrognathia + retroglossia + cleft soft palate
Achondroplasia
- autosomal dominant
- FGFR3 mutation
- short/dwarfism
- megalocephaly, small foramen magnum
- lumbar lordosis
Marfan Syndrome
- autosomal dominant
- fibrillin gene mutation
- tall, long/slim limbs
- arachnodactyly
- joint laxity –> kyphoscoliosis
- lens subluxation –> angle closure –> secondary glaucoma
- ascending aortic dilatation +/- dissecting aneurysm (common cause of death)
Ehlers-Danlos Syndrome
- autosomal dominant (6 types)
- hyperextensible skin
- fragile, easy bruising, poor wound healing
- joint hyperlaxity –> dislocations of major joints
- aortic root dilatation
- blue sclera
- ectopia lentis
Fetal Alcohol Syndrome
- prenatal (symmetric IUGR) and postnatal growth deficiency
- MR
- microcephaly
- hyperactivity in childhood
- mid-face dysmorphies
- abnormal frontal lobe development
- VSD >ASD, TOF
Fetal hyantoin syndrome
- prenatal exposure to carbamazepine, valproate, primidone, phenobarbitol
- hirsutism
- cupid’s bow lips
fetal valproate syndrome
- midface hypoplasia –> cleft lip
- cardiac defects
retinoid acid embryopathy
- from isotretinoin
- bilateral microtia/anotia (ear)
- facial nerve paralysis (ipsilateral to ear)
- CNS malformations
- dec intelligence
Potter Sequence
- renal agenesis/dysgenesis –> oligohydramnios –> fetal compression (face, ears)
- pulmonary hypoplasia –> death from respiratory insufficiency
CHARGE
Coloboma + Heart defects + Atresia choanal + Retardation of growth + Genital hypoplasia + Ear anomaly
VACTERL
Vertebral defects + Anal atresia + Cardiac defect + TE fistula + Esophageal fistula + Renal defects + Limb defects
