Clinical Characteristics

•    Short stature
      o    Adult height up to 134 cm or as small as 84 cm.
•    Delayed bone age

•    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
•    Mixed hearing loss
•    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.