Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome
- 3 June 1985
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 21 (2) , 317-324
- https://doi.org/10.1002/ajmg.1320210214
Abstract
We report on two sibs born to consanguineous parents with clinical and radiological features closely resembling those previously described by Insley and Astley [1974]. This observation provides further evidence for a distinct autosomal recessive condition with the facial appearance of Marshall syndrome, deafness, and skeletal dysplasia.Keywords
This publication has 7 references indexed in Scilit:
- The Weissenbacher‐Zweymüller, Stickler, and Marshall syndromes: Further evidence for their identityAmerican Journal of Medical Genetics, 1983
- Kniest disease with Pierre Robin syndrome and hydrocephalusPediatric Radiology, 1983
- Marshall/Stickler syndromeJournal of Medical Genetics, 1982
- The Weissenbacher-Zweymüller syndrome: Possible neonatal expression of the Stickler syndromeAmerican Journal of Medical Genetics, 1982
- THE WEISSENBACHER-ZWEYMULLER SYNDROME OF MICROGNATHIA AND RHIZOMELIC CHONDRODYSPLASIA AT BIRTH WITH SUBSEQUENT NORMAL GROWTHAmerican Journal of Roentgenology, 1975
- A bone dysplasia with deafnessThe British Journal of Radiology, 1974
- Abnormal Facies, Myopia, and Short StatureArchives of Disease in Childhood, 1972