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General Genetics > Skeletal Dysplasias > Flashcards

Skeletal Dysplasias Flashcards

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1
Q

Achondroplasia (Tyrion) Gene MOI

A

Gene: FGFR3
Results from a point mutation
MOI: AD
80% de movo
Increased risk with APA

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2
Q

Clinical features Achondroplasia

A

Macrocephaly with frontal bossing
Midface retrusion and depressed nasal bridge
Bowlegs
Trident hands
Excessive forward curvature of the spine in the upper back

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3
Q

Hypochondroplasia gene, MOI

A

GENE: FGFR3; (AD); majority of cases are de nov

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4
Q

Features of hypochondroplasia

A

Stocky build
Shortening of the proximal or middle segment s of the extremities
broad , short hands and feet with brachydactyly
Macrocephaly with relatively normal facies

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5
Q

Cleidocranial dysplasia (Stranger things)
gene, moi

A

RUNX2, AD

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6
Q

Classic triad for Cleidocranial dysplasia (Stranger things)

A

Delayed closure of the cranial sutures
Hypoplastic or aplastic clavicles
Dental abnormalities

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7
Q

Diastrophic dysplasia (Little people big world) Gene, moi

A

SLC26A2, AR

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8
Q

features for Diastrophic dysplasia (Little people big world)

A

Normal sized head
Slight trunk shortening
Hitchhiker thumb
Fusion of the joints of the fingers or toes
Small chest
CP cystic ear swelling

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9
Q

Hereditary multiple osteochondromas syndrome

A

Multiple osteochondromas (bony growths)
Gene: EXT1 OR EXT2
MOI: AD
10% de novo

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10
Q

Spondyloepiphyseal dysplasia congenita (SEDC) (harry potter) features

A

Barrel chest
Hearing loss
Myopia
Delayed ossification of the vertebrae and pubic bones

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11
Q

gene for Spondyloepiphyseal dysplasia congenita (SEDC)

A

COL2A1, (AD)

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12
Q

most common genes in OI

A

COL1A1 or COL1A2

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13
Q

OI type 1 Classic non deforming

A

Blue sclerra
Possible femoral bowing at birth
Joint hypermobility
Progressive hearing loss

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14
Q

OI type 2 Perinatally lethal

A

Evident at birth
Dark blue sclerra
Connective tissue is extremely fragile
Large, soft skull

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15
Q

OI type 3 Progressively deforming

A

Most do not walk without assistance
Water temp difference at belly button
Extreme growth delay and very short stature
Barrel chest
Hearing loss in teenage years

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16
Q

OI type 4 Common variable

A

Most variable form of OI
Mild to moderately severe
Mild short stature
Normal to gray sclera

17
Q

genes for craniosynostosis syndromes

A

FGFR1, FGFR2, FGFR3, TWIST1, and EFNB1

18
Q

Apert

A

Gene: FGFR2
MOI: AD

Clinical
Craniosynostosis
Flat forehead
Retracted midface, airway obstruction
Hypertelorism
Learning disabilities

19
Q

Pfeiffer syndrome

A

FGFR2, FGFR1
MOI: AD

Clinical
Normal to cloverleaf skull
Midface retrusion
Conductive hearing loss
Thumbs and great toes are broad and medially deviated, variable brachydactyly
Seizures

20
Q

Crouzon syndrome

A

FGFR2, FGFR3
MOI: AD

Clinical
Midface hypoplasia
Prominent nasal bridge
proptosis , strabismus
Underdeveloped upper jaw, overcrowding teeth
Hearing loss

21
Q

Antley- Bixler features

A

Clinical
Both coronal sutures fuse before birth, rarely lambdoid and metopic sutures are also fused
Midface hypoplasia
Choanal atresia or stenosis
Multiple join contractures, arachnodactyly

22
Q

flucanozole can cause similar features to

A

antley bixler

23
Q

Saethre- Chotzen

A

Gene: TWIST1
MOI: AD
Clinical
Underdeveloped eye sockets, cheekbones and lower jaw
Low set hairline
Drooping upper eye lid
⅔ syndactyly
Short stature, scoliosis

24
Q

Craniofrontonasal

A

Gene: EFNB1
MOI: X-linked
Primarily early fusion of coronal sutures
Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair
Males often have hypertelorism

25
Q

Beare-Stevenson cutis gyrata

A

Multi Suture craniosynostosis with cloverleaf skull
Moderate to severe midface retrusion, abnormal ears, CP, conductive hearing loss, tongue-based airway obstruction
Intellectual disability
Genitourinary anomalies

26
Q

Jackson-Weiss

A

Gene: FGFR2
MOI: AD
Conductive hearing loss
⅔ toe syndactyly
Multisuture craniosynotosis

27
Q

Meunke syndrome

A

Gene: FGFR3
MOI: AD
Features
Abnormally shaped head
Wide set eyes
Flattened cheekbones
Macrocephaly
Some hearing loss

28
Q

Conductive hearing loss is more common that sensorineural for all FGFR craniosynostosis syndromes except

A

Muenke

29
Q

Antley Bixler genes

A

FGFR2 (AD), POR (AR)

General Genetics (13 decks)

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