Table 1 Diagnostic characteristics of STWS

Embryonic

Oligohydramnios

[20]

Intrauterine growth restriction; low birth weight, length and head circumference

Growth retardation

[1, 2, 20]

Skeletal

Micromelia, bowing of the long bones with cortical thickening, wide metaphyses, and abnormal trabeculae

Progressive bowing of the long bones with continued radiologic abnormalities

[1, 2, 7, 12, 13, 19, 55]

Camptodactyly

Camptodactyly

[1, 2]

Scoliosis

Scoliosis

Corrective surgery

[7, 12, 13]

Osteopenia or osteoporosis

Osteopenia or osteoporosis

Bisphosphonates, calcium, vitamin D, human growth hormone, surgery and physical therapy

[11, 13, 18]

Facial anomalies

Facial anomalies

[18]

Spontaneous fractures Prominent joints with restricted mobility

Corrective surgery

[7, 12, 13, 119]

Muscular

Hypotonia, Contractures

[19]

Pulmonary

Respiratory distress

Respiratory distress improves

[1, 2]

Pulmonary hypoplasia

[20]

Cardiovascular

Pulmonary hypertension

[79–81]

Gastrointestinal

Dysphagia

Dysphagia improves

Intubation, nasogastric tube feeding, gastrostomy

[12, 13]

Nervous system

Hyperthermic episodes

Temperature instability

[1, 2]

Excessive sweating

Excessive and paradoxical sweating

[9]

Absent corneal and patellar reflexes

Absent corneal and patellar reflexes

[7, 12, 13]

Hypolacrimation

Hypolacrimation

artificial tear drops and ointments, lacrimal punctum dilation

[17, 120, 121]

Delayed motor development Reduced pain sensation Smooth tongue

[7, 12, 13]

Ocular

Corneal opacities

Corneal opacities

Keratectomy

[17, 120]

Endocrine system

Ectopic thyroid Hypothyroidism

[18]