Familial mandibuloacral dysplasia: report of an additional Italian patient.
Mandibuloacral dysplasia is a rare condition. Only 11 families have been reported and five of them were Italian, while consanguinity was found only in one report. We describe an additional Italian patient born from consanguineous parents.
Tudisco
C
C
Cattedra di Chirurgia della Mano, Università degli Studi di Roma "Tor Vergata," Rome, Italy. cosimo.tudisco@uniroma2.it
Canepa
G
G
Novelli
G
G
Dallapiccola
B
B
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005192:Family Health; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D008336:Mandibular Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D013909:Thorax / Q000002:abnormalities