Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity.

doi:10.1016/0887-8994(92)90010-v

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Article

Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity.

Pediatric neurology - 1 Jan 2000

Scalais E, Verloes A, Sacré J P, Piérard G E, Rizzo W B

Abstract excerpt

We report a boy and girl with a "new" multiple congenital anomalies/mental retardation syndrome which resemblances Sjögren-Larsson syndrome. Both patients had a concordant pattern of anomalies consisting of congenital lamellar ichthyosis with spontaneous improvement, moderate mental retardation, mild pyramidal involvement, telecanthus, flat facies, stubby long bones, and coxa valga. Severe myopia,...

Topics

Alcohol Oxidoreductases
Biopsy
Bone Diseases, Developmental
Brain Stem
Child
Child, Preschool
Evoked Potentials, Auditory, Brain Stem
Evoked Potentials, Somatosensory
Female
Follow-Up Studies
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Infant, Newborn

Male

Nerve Fibers, Myelinated

Neurologic Examination

Phenotype

Sjogren-Larsson Syndrome

Source

Open in PubMed

Identifiers

PMID: 1476577
DOI: 10.1016/0887-8994(92)90010-v

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1476577-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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