Initial examination in the neonatal nursery revealed a flaccid infant with severe hypotonia, absence of deep tendon reflexes, extremity contractions, high arched palate, long thin face, and arachnodactyly. [healio.com]

Although patients with LDS may have marfanoid habitus, they typically do not exhibit ectopia lentis or arachnodactyly. [chginc.org]

Men with Bloom Syndrome are usually infertile, and fertility appears to be reduced in women. Some individuals with Bloom syndrome also have mental retardation. These individuals usually die at an early age, but some have survived until their 40s. [kveller.com]

This assay should be performed in conjunction with routine chromosome studies for evaluation of male infertility. [chginc.org]

climbing stairs Difficulty jumping Difficulty lifting above the head Causes - Nemaline myopathy 6 Difficulty climbing stairs - see all causes of Leg weakness Difficulty running - see all causes of Walking symptoms Muscle stiffness - see all causes of [checkorphan.org]

running Difficulty climbing stairs Difficulty jumping Difficulty lifting above the head Causes - Nemaline myopathy 6 Difficulty climbing stairs - see all causes of Leg weakness Difficulty running - see all causes of Walking symptoms Muscle stiffness [checkorphan.org]

[…] modest increase of muscle strength for 6 months [ 57 ] posterior cervical orthodesis R: improved head drop, minimal rotatory restriction [ 13 ] a steroids   cyclophosphamide   IVIg   rituximab NR: died 21 m after onset [ 6 ] NIV condition stabilized, orthopnea [ojrd.biomedcentral.com]