NeurometPlus

Incidence

Autosomal recessive.

Clinical Characteristics

The Stuve-Wiedemann syndrome (SWS) comprises short stature, congenital bowing of the long bones, respiratory distress, and recurrent episodes of unexplained hyperthermia. The skeletal radiographic changes include short and broad long bones, large metaphyses, internal cortical thickening, and angulation primarily of tibiae and femora, but also of humeri and forearm bones. Some patients were shown as having a mitochondrial respiratory chain defect. The clinical, radiologic, and histologic similarities between STWS and those with 'neonatal' Schwartz-Jampel syndrome, or SJS type 2, suggest that STWS and SJS type 2 are a single entity. This syndrome is clinically homogeneous. Patients have feeding and swallowing difficulties, respiratory insufficiency, abnormal appearance, muscle hypotonia, and postnatal short stature. Recurrent episodes of unexplained fever occur in all and is the cause of death in most patients. Parental consanguinity and sib recurrence suggested autosomal recessive inheritance. Al-Gazali et al. (1996) reported 11 children in 5 families with severe neonatal SJS. All presented at birth with skeletal abnormalities and feeding difficulties. Five had the typical pursed appearance of the mouth. Nine died from respiratory complications (5 in the neonatal period and 4 before 2 years of age). The patients were mostly of Omani origin. Stuve-Wiedemann syndrome is typically lethal in the neonatal period. Al-Gazali et al. (2003) reported 3 children from 2 inbred Arab families with Stuve-Wiedemann syndrome who had survived the first year of life; their ages were 6, 2.8, and 2 years. In all 3 children the skeletal abnormalities progressed to severe bowing of the long bones with prominent joints and severe spinal deformity. All exhibited neurologic symptoms including temperature instability with excessive sweating, reduced pain sensation with repeated injury to the tongue and limbs, absent corneal reflexes, and a smooth tongue. All 3 children had normal intelligence. Radiologic changes included undertubulation of the diaphyses, rarefaction and striation of metaphyses, destruction of the femoral heads, and spinal deformity. This report confirmed that survival in this syndrome is possible and that the prognosis improves after the first year of life.

Precipitants

None

Provocation Tests

None

Diagnostic Procedures

It is a clinical diagnosis. Bone X Rays help in the diagnosis.