A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia.
We report on a 15-year-old girl with severe pre- and post-natal growth retardation, poorly muscled build, micrognathia, ulnar ray oligodactyly, absent clavicles, abnormal scapulae, humeroradial fusion, hip dislocation, small iliac wings, slender tubular bones and normal intelligence. An extensive search has failed to ascribe this association to a known condition. This child shared some clinical and radiological features with the Yunis-Varon syndrome but the normal intelligence and the ulnar ray oligodactyly of our patient does not support this diagnosis.
Faivre
L
L
Département de Génétique, Hĵpital Necker-Enfants Malades, Paris, France.
Cormier-Daire
V
V
Geneviève
D
D
Pinto
G
G
Goulet
O
O
Munnich
A
A
Maroteaux
P
P
Le Merrer
M
M
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities*; D002968:Clavicle / Q000002:abnormalities; D004392:Dwarfism / Q000473:pathology*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D006811:Humerus / Q000002:abnormalities; D007360:Intelligence; D007569:Jaw Abnormalities / Q000473:pathology*; D018482:Muscle, Skeletal / Q000473:pathology; D011884:Radius / Q000002:abnormalities