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Chondrodysplasia Punctata (CDP)

Chondrodysplasia Punctata (CDP). CDP with no family history & no biochemical information. CDP with distal phalangeal hypoplasia (males). RCDP with biochemical evidence of RCDP3 a. RCDP with biochemical evidence of RCDP2 b. CDP with raised 8-dehydrocholesterol and 8(9)-cholestenol.

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Chondrodysplasia Punctata (CDP)

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  1. Chondrodysplasia Punctata (CDP) CDP with no family history & no biochemical information CDP with distal phalangeal hypoplasia (males) RCDP with biochemical evidence of RCDP3a RCDP with biochemical evidence of RCDP2b CDP with raised 8-dehydrocholesterol and 8(9)-cholestenol RCDP with biochemical evidence of RCDP1c GNPAT (*100%) ARSE (*75%) PEX7 (*100%) AGPS (*100%) EBP(*100%) EBP (**54%) *Published data **In-house data (19/35 positive) a = Alkyl-Dihydroxyacetonephosphate Synthase deficiency b = Acyl-CoA:dihydroacetonephosphate acyltransferase deficiency C = Deficiency of plasmalogens in red blood cells, increased plasma concentration of phytanic acid and normal plasma concentration of very long chain fatty acids.

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