Mandibuloacral dysplasia

Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.

Micrognathia

Developmental hypoplasia of the mandible.


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(per page)
PMID (PMCID)
15311567
 MALE Child
A case of mandibuloacral dysplasia presenting with features of scleroderma.
Cefle A, Cefle K.
Int J Clin Pract. 2004;58(6):635-8.
This case demonstrates that mandibuloacral dysplasia should be considered in the differential diagnosis of juvenile scleroderma in the presence of atypical features such as negative serological studies, absence of Raynaud's phenomenon, sparse hair and micrognathia.
15311567
 MALE Child
A case of mandibuloacral dysplasia presenting with features of scleroderma.
Cefle A, Cefle K.
Int J Clin Pract. 2004;58(6):635-8.
On the basis of additional findings (micrognathia, dental malformation, a 'beaked nose', open cranial sutures and sparse hair), the patient was diagnosed as mandibuloacral dysplasia, a rare autosomal recessive disease.