Skeletal Dysplasias and Craniofacial syndromes Flashcards
1
Q
Disastrophic dysplasia
A
Hitchhiker thumb, broad chest
2
Q
Osteogenesis imperfecta
A
- 90% of cases are COL1A1 and COL1A2; AR; other 10% can be AD, AR, or X-linked in other genes
- 8 types (I mildest, II most severe)
- scoliosis, bowing of long bones, short stature, blue sclera, hearing loss, dentin defects, muscle weakness or joint laxity
- hearing loss may occur in ~50% of type I patients
3
Q
Apert syndrome
A
FGFR2 mostly paternally inherited craniosynostosis syndactyly "break" in eyebrows hypertelorism thin upper lip with tented appearance
4
Q
Crouzon syndrome
A
FGFR2; AD craniosynostosis acanthosis nigricans hypertelorism beaking of nose
5
Q
Pfeiffer syndrome
A
craniosynostosis
6
Q
Saethre-Chotzen syndrome
A
TWIST1 mutations most common craniosynostosis psosis beaked nose lowset hairline
7
Q
Craniofrontonasal dysplasia
A
EFNB1; X-linked dominant craniosynostosis marked hypertelorism Widow's peak broad nose
8
Q
Antley-Bixler syndrome
A
POR; AR
craniosynostosis
severe nasal bridge hypoplasia
9
Q
Achondroplasia
A
FGFR3
Incomplete dominance - one variant causes achondroplasia, but homozygosity (or compound heterozygosity) is lethal
10
Q
Dyschondrostoesis
A
SHOX; AD
pseudoautosomal region on sex chromosomes
11
Q
tooth agenesis
A
WNT10A, EDA, EDAR, EDARADD, plus KRT85, NECTIN1
12
Q
ectodermal dysplasia
A
WNT10A, EDA, EDAR, EDARADD, plus MSX1, AXIN2, PAX9, LTBP3
