A neuromuscular disorder with homozygosity for PIEZ02 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome

摘要

The proband was referred to the specialist Ehlers Danlos Syndrome (EDS) National Diagnostic Service with a clinical suspicion of kyphoscoliotic (EDS). She was the only child of first-cousin Kurdish Iraqi parents. Antenatal problems included intrauterine growth retardation and reduced foetal movements which lead to an elective caesarean section at 35 weeks of gestation. She was born in good clinical condition weighing 1.6 kg (second centile). Soon after birth, she was noted to have hypotonia, torticollis and abnormal curved posture when lying flat. An X-ray of the spine was normal. She had left-sided talipes and adducted thumbs. She required nasogastric tube feeding until 6 weeks of age.