Summary:
A female newborn baby presented with the features of
Rhizomelic chondrodysplasia Punctata (RCDP)
characterized by rhizomalic shortening with contracture of
lower extremities, ichthyosis, microcephaly, dysmorphic
facial features including a depressed nasal bridge,
hypoplastic midface, full cheeks & low set ear, breathing
difficulties and anthropometric measures below the expected
indexes for her age. The patient also presented congenital
heart disease, a less common manifestation of the syndrome.
Radiological features include epiphyseal stippling &