• Short stature
o Adult height up to 134 cm or as small as 84 cm.
• Delayed bone age
Head
• Skull-mild sclerosis around sutures
• Os odontoideum
• Tooth-microdontia,delayed eruption
Developmental delay
• Gross motor delay
Cardiovascular system
• Cardiomegaly
• Mitral regurgitation
• Pulmonary stenosis
• Aortic stenosis
• Aortic regurgitation
Gastric intestinal system
• Inguinal hernia
• Gastric volvulus
Ears
• Mixed hearing loss
Skeletal
• Congenital dislocation at birth
o Hip joint, Knee joint, elbow joint
• Camptodactyly
• Brachydactyly
• Elbow dislocation
• Bifurcated distal humeri
• Chest: Pectus excavatum, pectus carinatum
• Joint contractures-elbow, hands, knees, ankles
• Joint movement restriction-shoulders, elbows, knees, hips
• Reduced joint spaces.
• Spine-Scoliosis, Lordosis, Kyphosis, Platyspondyly, increased interpedicular distance, irregular vertebral margins and reduced joint spaces. Fusion of vertebrae
• Wide metaphysis of radius, ulna
• Flat epiphysis of metacarpals
• Extra epiphyses for carpals
• Coxa vara
• Genu valgum, cubitus valgus
• Short femoral neck
• Ossification of tendons at anterior superior iliac spine
• Hypertrophied and triangular epiphyses of lower end of femur
• Patella-hypoplastic and laterally deviated
• Hands-Proximally placed thumb, spatulate thumbs, short metacarpals
• Talipes equinovarus (congenital)
• Flat feet
• Prenatal -short long bones ,abnormal joint position, flexion deformity.
CHST3