PUF60

Clinical Characteristics

Neurologic
•    Neurodevelopmental disorder
•    Brain malformations

Growth
•    Short stature
•    Growth retardation

Head & Neck
•    Microcephaly
•    Bitemporal narrowing
•    Long philtrum
•    Coloboma
•    Short nose
•    Broad nasal root
•    Thin upper lip
•    Short neck

Cardiovascular
•    Septal defects

Abdomen
•    Poor feeding
•    Failure to gain weight
•    Renal hypoplasia, agenesis
•    Renal cysts
•    Renal fusion

Skeletal
•    Vertebral abnormalities, hemivertebrae, fused vertebrae
•    Scoliosis
•    Hip dislocation, elbow subluxation
•    Short fifth fingers, clinodactyly, malpositioned thumbs