Mandibulo-acral dysplasia.
We report on a 7 year-old-girl with mandibulo-acral dysplasia. When she was 3 years of age it mimicked scleroderma because of skin atrophy and later on a Hutchinson-Gilford progeria syndrome (HGP). Acro-mandibular dysplasia was diagnosed because of facial hypoplasia and mandibular hypoplasia. The bilateral proximal mid-humeral notch seen in this case is unusual.
Hoeffel
J C
JC
Department of Radiology, Children's Hospital, Vandoeuvre, France.
Mainard
L
L
Chastagner
P
P
Hoeffel
C C
CC
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000235:genetics; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002968:Clavicle / Q000002:abnormalities* / Q000000981:diagnostic imaging; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008334:Mandible / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008844:Micrognathism / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography; D013577:Syndrome