๐ ็ธฝ็ฎ้ ๏ฝ ๐ ่ฑๆๅๆ๏ผๆฌ็ฏ๏ผ ๏ฝ ๐ ๅฎๆด็ฟป่ญฏ ๏ฝ โญ ็ฒพ่ฏ็ญ่จ
Neu-Laxova syndrome
Neu-Laxova syndrome
Neu-Laxova syndrome is an autosomal recessive inherited congenital ichthyosis caused by mutations leading to phosphoglycerate dehydrogenase deficiency.1โ3 It is characterized by marked intrauterine growth retardation, polyhydramnion, and congenital ichthyosis with a thin, tightly adherent, translucent skin and typical facial dysmorphology that resembles restrictive dermopathy, another neurocutaneous genodermatosis.4 Associated syndromic features are microcephaly, central nervous system anomalies, short neck, limb deformities, and hypoplastic lungs. Histology of the skin reveals focal parakeratosis.