NEW SYNDROME OR SEVERE EXPRESSION OF GORDON SYNDROME - A CASE-REPORT

Citation
W. Courtens et al., NEW SYNDROME OR SEVERE EXPRESSION OF GORDON SYNDROME - A CASE-REPORT, Clinical dysmorphology, 6(1), 1997, pp. 39-44
Citations number
11
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
09628827
Volume
6
Issue
1
Year of publication
1997
Pages
39 - 44
Database
ISI
SICI code
0962-8827(1997)6:1<39:NSOSEO>2.0.ZU;2-N
Abstract
A boy with multiple congenital anomalies including median cleft palate , bilateral hearing loss, clino- and camptodactyly, bilateral single p almar flexion creases, severe hypotonia with kyphoscoliosis and respir atory insufficiency, failure to thrive, bilateral cryptorchidism and f acial dysmorphism (epicanthus, a flat nasal bridge, a small mouth, a s mall nose with anteverted nostrils, low-set ears, a prominent forehead , microretrognathia) is presented. His mother has a median cleft palat e, bilateral hearing loss, single palmar flexion creases, and short st ature. An autosomal or X-linked dominant syndrome with more severe exp ression in the proband than in his mother is suggested.