ACHONDROPLASIA
S
Large C/f: disproportionate dwarfism: proximal limbs are shorter(Rhizomelic)
Short toe and fingers which is K/a Trident hand
Frontal bossing and large hand
Flat nasal bridge and midface hypoplasia
Spinal kypohosis or lordosis
Recurrent ear infection due to blockage of ETube
Varus/ valgus knee deformity
Genetics: AD, affected individual s are all heterozygous since homozygosity is lethal to foetus.
Mutation in fGFR 3 gene
PSEUDOACHONDROPLASIA:
features are similar to achondroplasia except macrocephaly and facial dysmorphism
form of spinoepiphyseal dysplasia
4 character: bowing of legs: genu valgum
laxity of all joints except elbow which has contracture
small irregular epiphysis, irregular broad metaphysis of long bones.
SKELETAL DYSPLASIA WITH HEARING IMPAIRMENT:
1. diastrophic dysplasia
2. spondyloepiphyseal dysplasia congenita
3. morquio syndrome
+ Spondyloepiphyseal dysplasia seen in stickler syndrome
Mutation in fGFR 3 gene
PSEUDOACHONDROPLASIA:
features are similar to achondroplasia except macrocephaly and facial dysmorphism
form of spinoepiphyseal dysplasia
4 character: bowing of legs: genu valgum
laxity of all joints except elbow which has contracture
small irregular epiphysis, irregular broad metaphysis of long bones.
SKELETAL DYSPLASIA WITH HEARING IMPAIRMENT:
1. diastrophic dysplasia
2. spondyloepiphyseal dysplasia congenita
3. morquio syndrome
+ Spondyloepiphyseal dysplasia seen in stickler syndrome
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