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Trisomy 21 S/Sx
- MR - IQ 35-70
- general hypotonia (CNS origin; meet most major milestones at 2x normal age)
- balding scalp hair pattern
- upslanted eyes w/epicanthal folds
- extra neck skin folds
- flat nasal bridge, prominent tongue
- joint laxity
- brushfield's spots on irises
- subendocardial cushion defect (ASD/VSD, AV canal)
- duodenal atresia, Hirschsprung's, imperforate anus
- hypothyroid (screen yearly)
- early onset dementia
- increased risk leukemia
- atlantoaxial instability
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Chromosome 21 encodes 2/3 proteins needed to assemble...
triple helix of collagen VI - abnormal in Downs; imp in scaffolding during embryologic development of nervous & connective tissue
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S/Sx Trisomy 18
- low set ears, small mouth, short sternum
- thumb & radius agenesis/hypoplasia
- camptodactyly (little finger fixed in flexion)
- redundant cardiac valve leaflets
- hypertonia
- seizures
- rocker bottom feet
- **only 5-10% survive beyond 1st yr
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S/Sx Trisomy 13
- holoprosencephaly (fail telencephalon to divide to 2 hemispheres; central lg ventricle)
- microphtalmia + other eye defects
- midline facial cleft
- polydactyly
- scalp cutis aplasia
- cystic kidneys
- VSD
- **5% survive past 6 mos
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Turner's - chroms?
45, XO
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S/Sx Turner's Syndrome
- short stature
- phenotypically female
- perygium colli (webbed neck)
- smll mandible, narrow maxilla, high arch palate
- epicanthal folds
- increased distance btw nipples
- pedal edema
- cubitus valgus
- impaired hearing (sensorineural)
- delayed motor skill development w/ normal intelligence
- coarctation of aorta + bicuspid aortic valve
- ovarian dysgenesis
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Klinefelter's chroms? / etiology
- extra X chromosome in males
- 47, XXY most common
- 48, XXXY or more also seen
(1/500 males; advanced maternal age is risk factor)
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S/Sx Klinefelter's
- hypogonadism
- azoospermia
- tall
- female hair distribution
- learning disabilities
- delayed motor skill development
- Barr body present (inactivated x chrom)
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Tx Klinefelter's
- admin testosterone during puberty to improve secondary sex characteristics
- developmental delay/learning disabilities interventions
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Angelman's syndrome Etiology
- 75% maternal deletion 15q11 -> q13
- 23% chrom 15 mutations
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S/Sx Angelman's
- happy, laughing disposition ('happy puppet')
- attractive, lighter pigmentation than family
- MR (severe)
- microcephaly
- ataxia
- hypotonia
- epilepsy (80%) w/ EEG findings
- absent speech
- lg. mandible, open-mouthed expression revealing tongue
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Angelman's Tx
- supportive
- seizures often refractory to anticonvulsant therapy
- normal life span
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Prader Willi etiology
- 75% paternal deletion 15q11--> q13
- 25% maternal disomy
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Prader-Willi & obesity
hyperphagia/lack of satiety, decreased caloric requirement 2/2 to hypotonia/decreased movement, & obsessions/compulsions that focux on food --> vicious cycle
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S/Sx Prader-Willi
- hypotonia & poor feeding in infants --> hyperphagia/obesity
- precocious puberty
- micropenis
- mild MR
- sleep disturbances
- lighter pigmentation than family
- sig behavior probs (stubborn, manipulate, aggressive)
- fluent speech
- obsess/compulsive traits
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Prader-Willi Tx
- growth hormone to promote stature; other hormone supplementation to promote secondary sex characteristics
- obesity complications limit life span
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XYY males S/Sx
- normal/ low-norm intelligence
- phenotypically normal
- tall, severe acne
- rarely, antisocial behavior
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XXX Syndrome S/Sx
- 47, XXX
- phenotypically normal female w/ norm sex development & menarche
- variable severity of speech/language delays, lack coordination, & poor academic performance
- may be gangly, tall, & have behavior disorders
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XXXX or XXXXX S/Sx
- MR, worse w/ increasing # X's
- epicanthal folds, hypertelorism, clinodactyly, CHD, radioulnar synostosis
- often incomplete sex maturation
- often tall w/XXXX, short w/ XXXXX
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Noonan's syndrome - chroms? etiology?
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Noonan's syndrome S/Sx
- similar to Turner's
- facies: traingular, hypertelorism, down-slanting eyes, ptosis, strabismus, amblyopia, low set ears w/ thick helices, high nasal bridge, short, webbed neck
- pectus carinatum/excavatum, scoliosis
- cardiac: pulm stenosis, ASD, or hypertropic cardiomyopathy
- assorted skeletal abnormalities
- skin: lymphedema, prominent pads of digits
- neuro: hypotonia
- MR in 25%
- delayed sex maturation, premature ovarian failure; >1/2 males have undescended testes
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Fragile X etiology/epidemiology/risk factors
- Etiol: x-linked dominant, triplet repeats
- Epidem: 1/2,000 births; M=F
- Risk: family hx
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Fragile X S/Sx
- MR
- macroorchidism in boys
- protruding ears
- triangular, elongated facies
- flat malar bones
- shyness, autistic behavior, avoidance of eye contact
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Alport's Syndrome
- rare, x-linked recessive disorder of basement membranes of kidney, eye, & ear (type IV collagen)
- glomerulonephritis, ESRD by age 40 (men)
- hearing loss (90% of males)
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male adolescent presents w/ hematuria, proteinuria, & decreased hearing
Think: Alport's syndrome
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Autosomal Dominant Conditions
ppl in every generation affected
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Autosomal Recessive Conditions
- skips generations (often parents w/ similar condition)
- hx early deaths from unknown d/o's or multiple miscarriages
- consanguinity increases odds
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X-linked recessive conditions
- only males affected
- females unaffected or only partially affected (due to lyonization) carriers of the trait
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cleft palate/lip repair
- surgical repair of lip w/i first mos of life
- palate ~1 yr of life
- potential for final repairs & scar revisions in adolescence
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cleft lip/palate pathophysiology
- clefting of lip & anterior (primary) palate due to defect in fusing of both maxillary processes w/frontonasal process during weeks 5-6
- clefting of posterior (secondary) palate due to defect in fusion of palatal shelves during weeks 7 & 8
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Omphalocele definition + tx
- herniation of abdominal contents (usually only intestine) through umbilical root, covered only by peritoneum
- Tx - serial reductions of intestines back into abdomen until skin closure possible
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Oligohydramnios definition + complications
- AFI < 5.0 cm
- Complications: fetal demise; pulmonary hypoplasia; facial deformities; skeletal deformities (compressed thorax, twisted feet)
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Potter's syndrome definition
- bilateral renal agenesis
- includes: pulmonary hypoplasia, skeletal anomalies, & characteristic facies (sloping forehad, flat nose, recessed chin, lowset, floppy ears)
- incompatible w/ neonatal life
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