New syndrome or severe expression of Gordon syndrome? A case report.
A boy with multiple congenital anomalies including median cleft palate, bilateral hearing loss, clino- and camptodactyly, bilateral single palmar flexion creases, severe hypotonia with kyphoscoliosis and respiratory insufficiency, failure to thrive, bilateral cryptorchidism and facial dysmorphism (epicanthus, a flat nasal bridge, a small mouth, a small nose with anteverted nostrils, low-set ears, a prominent forehead, microretrognathia) is presented. His mother has a median cleft palate, bilateral hearing loss, single palmar flexion creases, and short stature. An autosomal or X-linked dominant syndrome with more severe expression in the proband than in his mother is suggested.
Courtens
W
W
Department of Medical Genetics, University Hospital Brugmann, Brussels, Belgium.
Perlmutter
N
N
Dan
B
B
Vamos
E
E
D000015:Abnormalities, Multiple / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome; D014960:X Chromosome