severe muscle hypotonia at birth, scoliosis at birth, scleral fragility, rupture of the ocular globe • Positive family history (e.g., affected siblings) • Physical findings include tissue ...

Karyotype was normal, as were abdominal and renal ultrasonography. Severe hypotonia, drooping puffy eyelids, and bilateral limb edema became evident from the first month. Cerebral magnetic ...