Sjögren-Larsson-like syndrome with bone dysplasia and normal fatty alcohol NAD+ oxidoreductase activity.
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.
Scalais
E
E
Department of Pediatrics, Liège University, Belgium.
Verloes
A
A
Sacré
J P
JP
Piérard
G E
GE
Rizzo
W B
WB
D000429:Alcohol Oxidoreductases / Q000378:metabolism*; D001706:Biopsy; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000235:genetics*; D001933:Brain Stem / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D005073:Evoked Potentials, Somatosensory / Q000502:physiology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000502:physiology; D009460:Neurologic Examination; D010641:Phenotype; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D012867:Skin / Q000473:pathology; D013003:Somatosensory Cortex / Q000503:physiopathology
D000429:Alcohol Oxidoreductases; C065402:long-chain-alcohol dehydrogenase