Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: a possible error of chondroitin-6-sulfate synthesis

Two male and two female sibs with an unusual form of spondyloepiphyseal dysplasia were reported. The main clinical features were low stature, moderate shortness of trunk and neck, abnormal span: height ratio, low-normal UBS: LBS ratio, and peripheral corneal punctate opacities only seen by the slitl...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 2; no. 4; p. 385
Main Authors Toledo, S P, Mourão, P A, Lamego, C, Alves, C A, Dietrich, C P, Assis, L M, Mattar, E
Format Journal Article
LanguageEnglish
Published United States 1978
Subjects
Abnormalities, Multiple - genetics
Abnormalities, Multiple - urine
Adolescent
Adult
Child
Child, Preschool
Chondroitin - analogs & derivatives
Chondroitin Sulfates - urine
Corneal Opacity - genetics
Corneal Opacity - urine
Female
Genes, Recessive
Humans
Male
Mucopolysaccharidosis IV - genetics
Mucopolysaccharidosis IV - urine
Pedigree
Time Factors
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Summary:Two male and two female sibs with an unusual form of spondyloepiphyseal dysplasia were reported. The main clinical features were low stature, moderate shortness of trunk and neck, abnormal span: height ratio, low-normal UBS: LBS ratio, and peripheral corneal punctate opacities only seen by the slitlamp. Normal mental status was present. Typical metachromatic granules were not seen either in bone-marrow cells or in peripheral blood cells. The X-ray picture showed spondylar and pelvic dysplasia. Qualitative rather than quantitative anomalies were shown in the urinary mucopolysaccharides, mostly involving chondroitin-6-sulfate. The genetic data are consistent with autosomal recessive inheritance.
ISSN:0148-7299
DOI:10.1002/ajmg.1320020408