Results 171 to 180 of about 12,465 (227)

Human genetic defects of sphingolipid synthesis. [PDF]

open access: yesJ Inherit Metab Dis
Dubot P, Sabourdy F, Levade T.
europepmc   +1 more source
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Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency

Pediatric dermatology, 2023
We describe a case of collodion baby diagnosed prenatally by ultrasound. Classic signs (ectropion, flattened nose, and eclabion) were detected on routine ultrasound at 21 weeks of gestation.
A. Cordisco   +9 more
semanticscholar   +1 more source

Collodion baby syndrome: A case study

Indian Journal of Continuing Nursing Education, 2021
Collodion baby syndrome is a rare congenital autosomal recessive type of ichthyosis. It is a skin disorder characterised by parchment-like taut membrane which is present during birth.
Joy Priyadharishini, F. Evelyn
semanticscholar   +1 more source

A case of self‐improving collodion ichthyosis in Vietnam

Pediatric dermatology, 2020
Autosomal recessive congenital ichthyosis is a heterogeneous group of congenital disorders characterized by aberrant skin cornification and diffuse skin scaling.
Quang Minh Diep   +7 more
semanticscholar   +1 more source

Mild collodion baby as a presenting sign of loricrin keratoderma: report of a case and review of the literature

Clincal and Experimental Dermatology, 2020
A 12-day-old boy presented with cutaneous anomalies that had been present since birth. He was the first child of unrelated white parents, and had been born at gestational week 37 after an uneventful delivery.
E. Muñoz-Aceituno   +3 more
semanticscholar   +1 more source

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