Acromesomelic dwarfism: a new variation.
The rate skeletal disorder, acromesomelic dwarfism, is characterized by short stature and short limbs. Bone dysplasia is evident. We report two cases of a variation of this disorder in a Portuguese woman and her son. The clinical features of these two cases differ from those of cases previously reported in the literature.
Ferraz
F G
FG
Department of Genetics, HCL, Pediatrics Hospital of D Estefânia, Lisbon, Portugal.
Maroteaux
P
P
Sousa
J P
JP
Alves
T
T
Dias
I
I
Ferraz
E
E
Marques
M
M
Santos
L
L
D000328:Adult; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005385:Fingers / Q000473:pathology; D005542:Forearm / Q000473:pathology; D006801:Humans; D010375:Pedigree; D011859:Radiography