ID#: 21080
Caption:
This image depicted the buttocks and legs of an infant, who had been born with two genetic disorders, congenital ichthyosiform erythroderma (CIE), and achondroplastic dwarfism. The former is an autosomal recessive genetic disorder, while the latter an autosomal dominant genetic disorder. CIE leads to the formation of a generalized scaling, and peeling of the skin, ectropion, or an outward turning of the eyelids, and eclabion, or an outward turning of the lips (See PHIL 21071). Hair loss can also be a symptom of this disorder. Achondroplastic dwarfism leads to abnormally stunted bone growth with shortening of the proximal limbs, fingers and toes, large head with bossing of the forehead, flattened nasal bridge, as well as other signs and symptoms unseen in this image, including hyperkyphotic, or hyperlordotic curvatures of the spine, frequent ear infections, varus deformity of the legs, and possible hydrocephalus.
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