other dysplasias

Hypochondrodysplasia

· clinically and radiologically appears as mild form of achondroplasia

· different genetically

· main features are

· lumbar lordosis

· slight dwarfism with rhizomelia

· may remain undiagnosed

Chondrodysplasia punctata

· characterised by punctate stippling of epiphyses

· two forms

Conradi-Hunnerman

· autosomal dominant

· congenital cataracts

· asymmetric limb shortening

· joint contracture

· scoliosis

· epiphyseal stippling

· long bones, pelvis and vertebrae

· to age of 4 yrs

· epiphyses may remain irregular like epiphyseal dysplasia

Rhizomelic form

· autosomal recessive

· lethal by age 1

Metaphyseal chondrodysplasia

· heterogenous group of disorders

· short-limbed dwarfism

· changes confined to metaphyses of long bones

· most common form is Schmidt type

· coxa vara

· genu varum

· lumbar lordosis

· x-rays show cupping and splaying of metaphyses

· resembles healing rickets

Cleidocranial dysplasia

· involves bones formed by intramembranous ossification

· facial bones

· cranium

· clavicles

· flat face and absent clavicles

· autosomal dominant

Clinical features

· mild shortness of stature

Face

· large head

· frontal prominence

· flat face

· abnormal dentition

Shoulders

· drooping shoulders

· narrow chest

· can bring shoulders together anteriorly

Pelvis

· narrow pelvis

· wide symphysis pubis

radiology

· wormian bones in skull

· absent clavicles

· coxa vara

Nail-patella syndrome

· relatively common

· autosomal dominant

· hypoplastic nails

· absent or hypoplastic patellae

· radial head subluxed laterally

· horns on lateral aspect of iliac blades

Apert’s syndrome

· most common craniofacial dysplasia

· egg-shaped head

· depressed face and prominent jaw

· syndactyly or synostosis of medial rays of hands and feet