Familial mandibuloacral dysplasia: report of an additional Italian patient

C Tudisco; G Canepa; G Novelli; B Dallapiccola

doi:10.1002/1096-8628(20000918)94:3<237::aid-ajmg10>3.0.co;2-9

Familial mandibuloacral dysplasia: report of an additional Italian patient

Am J Med Genet. 2000 Sep 18;94(3):237-41. doi: 10.1002/1096-8628(20000918)94:3<237::aid-ajmg10>3.0.co;2-9.

Authors

C Tudisco¹, G Canepa, G Novelli, B Dallapiccola

Affiliation

¹ Cattedra di Chirurgia della Mano, Università degli Studi di Roma "Tor Vergata," Rome, Italy. [email protected]

PMID: 10995511
DOI: 10.1002/1096-8628(20000918)94:3<237::aid-ajmg10>3.0.co;2-9

Abstract

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Adult
Bone and Bones / abnormalities*
Bone and Bones / diagnostic imaging
Family Health
Fingers / abnormalities
Fingers / diagnostic imaging
Genes, Recessive
Genetic Diseases, Inborn / genetics*
Humans
Italy
Male
Mandibular Diseases / diagnostic imaging
Mandibular Diseases / genetics*
Pedigree
Radiography
Thorax / abnormalities