A new recessive syndrome of unusual facies and multiple structural abnormalities.
Open Access
- 1 September 1991
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 28 (9) , 633-635
- https://doi.org/10.1136/jmg.28.9.633
Abstract
Two sibs with a similar pattern of dysmorphic facial features and multiple structural abnormalities are reported. Both had a normal karyotype. The parents are first cousins and neither shows any stigmata of the disorder. In view of the consanguinity and pattern of malformations, autosomal recessive inheritance seems likely.Keywords
This publication has 3 references indexed in Scilit:
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- Spectrum of the DiGeorge “syndrome”The Journal of Pediatrics, 1980
- The spectrum of the DiGeorge syndromeThe Journal of Pediatrics, 1979