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

Emmanuel Scalais, Alain Verloes, Jean Paul Sacré, Gérald E. Piérard, William B. Rizzo

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

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, ventriculoseptal defect, and postaxial polydactyly were present in the girl who had more severe bone involvement with dense, enlarged metaphyses, vertebral dysplasia, and advanced skeletal maturation of the lower limbs. Long-chain fatty alcohol NAD+ oxidoreductase (FAO) and steroid sulfatase were normal.

Original languageEnglish (US)
Pages (from-to)459-465
Number of pages7
JournalPediatric Neurology
Volume8
Issue number6
DOIs
StatePublished - Jan 1 1992

Fingerprint

long-chain-alcohol dehydrogenase
Developmental Bone Disease
Intellectual Disability
Coxa Valga
Lamellar Ichthyosis
Steryl-Sulfatase
Bone and Bones
Myopia
Lower Extremity

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

Cite this

Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity. / Scalais, Emmanuel; Verloes, Alain; Sacré, Jean Paul; Piérard, Gérald E.; Rizzo, William B.

In: Pediatric Neurology, Vol. 8, No. 6, 01.01.1992, p. 459-465.

Research output: Contribution to journalArticle

Scalais, Emmanuel ; Verloes, Alain ; Sacré, Jean Paul ; Piérard, Gérald E. ; Rizzo, William B. / Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity. In: Pediatric Neurology. 1992 ; Vol. 8, No. 6. pp. 459-465.
@article{b9eb4a38fb7f4dda999ca1a2312b9c60,
title = "Sj{\"o}gren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity",
abstract = "We report a boy and girl with a {"}new{"} multiple congenital anomalies/mental retardation syndrome which resemblances Sj{\"o}gren-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, ventriculoseptal defect, and postaxial polydactyly were present in the girl who had more severe bone involvement with dense, enlarged metaphyses, vertebral dysplasia, and advanced skeletal maturation of the lower limbs. Long-chain fatty alcohol NAD+ oxidoreductase (FAO) and steroid sulfatase were normal.",
author = "Emmanuel Scalais and Alain Verloes and Sacr{\'e}, {Jean Paul} and Pi{\'e}rard, {G{\'e}rald E.} and Rizzo, {William B.}",
year = "1992",
month = "1",
day = "1",
doi = "10.1016/0887-8994(92)90010-V",
language = "English (US)",
volume = "8",
pages = "459--465",
journal = "Pediatric Neurology",
issn = "0887-8994",
publisher = "Elsevier Inc.",
number = "6",

}

TY - JOUR

T1 - Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity

AU - Scalais, Emmanuel

AU - Verloes, Alain

AU - Sacré, Jean Paul

AU - Piérard, Gérald E.

AU - Rizzo, William B.

PY - 1992/1/1

Y1 - 1992/1/1

N2 - 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, ventriculoseptal defect, and postaxial polydactyly were present in the girl who had more severe bone involvement with dense, enlarged metaphyses, vertebral dysplasia, and advanced skeletal maturation of the lower limbs. Long-chain fatty alcohol NAD+ oxidoreductase (FAO) and steroid sulfatase were normal.

AB - 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, ventriculoseptal defect, and postaxial polydactyly were present in the girl who had more severe bone involvement with dense, enlarged metaphyses, vertebral dysplasia, and advanced skeletal maturation of the lower limbs. Long-chain fatty alcohol NAD+ oxidoreductase (FAO) and steroid sulfatase were normal.

UR - http://www.scopus.com/inward/record.url?scp=0027008362&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027008362&partnerID=8YFLogxK

U2 - 10.1016/0887-8994(92)90010-V

DO - 10.1016/0887-8994(92)90010-V

M3 - Article

C2 - 1476577

AN - SCOPUS:0027008362

VL - 8

SP - 459

EP - 465

JO - Pediatric Neurology

JF - Pediatric Neurology

SN - 0887-8994

IS - 6

ER -