Short stature and walking difficulties become evident in the 2 nd year of life when the child starts to walk. These skeletal changes are progressive with age. [ncbi.nlm.nih.gov]

WRS should be suspected in any child who presents with permanent, nonimmune neonatal/infantile diabetes associated with skeletal dysplasia, short stature, episodes of acute liver failure, or pancytopenia, diabetes associated with skeletal dysplasia, short [abstracts.eurospe.org]

Thyroid dysfunction in WRS is a transient phenomenon reflecting euthyroid sickness. [ncbi.nlm.nih.gov]

She was euthyroid on L-thyroxine therapy. [abstracts.eurospe.org]

However, in two patients, the changes were transient in keeping with euthyroid sickness (ES), while in the remaining three patients the thyroid function tests were not repeated. [tandfonline.com]

This report presents an 8-year-old WRS case who is found to have W522X mutation in EIF2AK3 gene which was only found in two other unrelated Turkish families. [ncbi.nlm.nih.gov]

In particular, it was observed in four out of four patients studied from two Turkish families with the W522X mutation, three out of three French/Tunisian siblings with the Fs346X346 mutation, one child with a Fs910X956 in a single-affected family, and [doi.org]

[…] in childhood from fulminant liver and concomitant kidney failure. [ncbi.nlm.nih.gov]

Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections. Pediatr Diabetes. 2008 ; 9: 240 – 4. [doi.org]

Clinical follow up of the affected individuals shows that in at least some of them, PNDM was associated with short stature, failure to thrive, neurodevelopmental delay, epilepsy and hepatic and renal dysfunction. [ncbi.nlm.nih.gov]

Other features such as renal dysfunction, failure to thrive, neutropenia, exocrine pancreatic insufficiency, hypothyroidism, recurrent infection, and developmental delay have been reported in some patients (3–5). [tandfonline.com]

Other features such as renal dysfunction, failure to thrive, neutropenia, exocrine pancreatic insufficiency, hypothyroidism, recurrent infection, and developmental delay have been reported in some patients ( 3 Senee V, Vattem KM, Delepine M, Rainbow LA [doi.org]

Other features of the syndrome include renal dysfunction, failure to thrive, neutropenia, exocrine pancreatic insufficiency, hypothyroidism, recurrent infection and developmental delay. [edm.bioscientifica.com]

Wolcott–Rallison syndrome, WRS, is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings [en.wikipedia.org]

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes, spondyloepiphyseal dysplasia, tendency to skeletal fractures secondary to osteopenia, and growth retardation. [ncbi.nlm.nih.gov]

There is usually a short trunk, excessive lordosis, a short and broad chest, and genu valgum. This report presents a case of Wolcott-Rallison syndrome in a 10 year old child. [ncbi.nlm.nih.gov]

Regarding vertebrae, changes are especially marked at the dorsolumbar level with a consequent appearance of thoracic kyphosis and/or lumbar lordosis. Difficulty in walking is frequent. [journals.lww.com]

Skeletal survey revealed epiphyseal dysplasia involving proximal and distal femoral epiphysis and proximal tibial epiphysis, generalized osteoporosis, thoracic kyphosis and lumbar lordosis and mild platyspondyly. [degruyter.com]

Changes are especially marked at the dorso-lumbar level with a consequent appearance of thoracic kyphosis and/or lumbar lordosis. [doi.org]

Affected individuals also experience early onset pain and stiffness in affected joints (early-onset arthritis) that can develop in chronic joint pain (arthralgia) and damage to the joints. The hips and the knees are commonly affected. [rarediseases.org]

The findings suggested a metabolic block in mitochondrial fatty acid oxidation, but lack of material precluded enzyme analyses. [ncbi.nlm.nih.gov]