From: Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology
Organ system | Neonatal | Childhood | Treatment | Reference |
---|---|---|---|---|
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] |