Abstract |
We describe a brother and sister with Hirschsprung disease, hypotonia, and ptosis. Their condition resembles that in 2 sibs reported by Goldberg and Shprintzen. We conclude that the clinical characteristics in 8 reported cases with similar clinical manifestations represent a distinct autosomal recessive syndrome, Goldberg-Shprintzen syndrome.
|
Authors | A Yomo, T Taira, I Kondo |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 41
Issue 2
Pg. 188-91
(Nov 01 1991)
ISSN: 0148-7299 [Print] United States |
PMID | 1785632
(Publication Type: Case Reports, Journal Article, Review)
|
Topics |
- Blepharoptosis
(genetics)
- Child, Preschool
- Dermatoglyphics
- Dwarfism
(genetics)
- Female
- Genes, Recessive
- Hirschsprung Disease
(genetics)
- Humans
- Infant, Newborn
- Intellectual Disability
(genetics)
- Male
- Muscle Hypotonia
(genetics)
- Syndrome
|