TY - CHAP M1 - Book, Section TI - Chondrodysplasia Punctata A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - Refers to a heterogeneous group of disorders having in common ichthyosis and bony abnormalities, most likely as a result of abnormalities of steroidal biosynthesis. The international nomenclature and classification of osteochondrodysplasias categorized the subtypes of chondrodysplasia punctata as (1) rhizomelic type, (2) ☞Zellweger Syndrome, (3) Conradi-Hünermann type, (4) X-linked recessive type, (5) brachytelephalangic type, (6) tibial-metacarpal type, (7) vitamin K-dependent coagulation defect, and (8) other and acquired genetic disorders including warfarin embryopathy. Specific features of the most common individual types of chondrodysplasia punctata are given below. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessanesthesiology.mhmedical.com/content.aspx?aid=1164065589 ER -