par Courtens, Winnie;Perlmutter, Noemi ;Dan, Bernard ;Vamos, Eszter
Référence Clinical dysmorphology, 6, 1, page (39-44)
Publication Publié, 1997-01
Article révisé par les pairs
Résumé : 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.