Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?
- 1 November 1988
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 25 (11) , 758-761
- https://doi.org/10.1136/jmg.25.11.758
Abstract
Three children are reported, a male and female sib pair of Sikh origin and a male child who was the offspring of first cousin Pakistani Muslims, with Hirschsprung''s disease, hypoplastic nails, and similar minor dysmorphic features. We consider that they represent a distinct autosomal recessive syndrome.This publication has 8 references indexed in Scilit:
- The London Dysmorphology Database.Journal of Medical Genetics, 1987
- Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia.Journal of Medical Genetics, 1987
- A case of Fryns syndrome.Journal of Medical Genetics, 1986
- The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia Further evidence for autosomal recessive inheritanceClinical Genetics, 1985
- Fryns syndrome: A new variable multiple congenital anomaly (MCA) syndromeAmerican Journal of Medical Genetics, 1983
- Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. - a new lethal syndrome.1980
- A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformitiesHuman Genetics, 1979
- Severe developmental failure with coarse facialfeatures, distal limb hypoplasia, thickened palmar creases, bifid uvula, and ureteral stenosis: A previously unidentified familial disorder with lethal outcomeThe Journal of Pediatrics, 1971