In:
American Journal of Medical Genetics, Wiley, Vol. 2, No. 4 ( 1978-01), p. 385-395
Abstract:
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 dysplasias. 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.
Type of Medium:
Online Resource
ISSN:
0148-7299
,
1096-8628
DOI:
10.1002/ajmg.1320020408
Language:
English
Publisher:
Wiley
Publication Date:
1978
detail.hit.zdb_id:
2143866-3
detail.hit.zdb_id:
2143867-5
detail.hit.zdb_id:
1493479-6
detail.hit.zdb_id:
2205916-7
SSG:
12
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