RESUMO
BACKGROUND: Mandibuloacral dysplasia type A (MADA) is a rare autosomal recessive disorder, characterized by growth retardation, skeletal abnormality with progressive osteolysis of the distal phalanges and clavicles, craniofacial anomalies with mandibular hypoplasia, lipodystrophy and mottled cutaneous pigmentation. Some patients may show progeroid features. MADA with partial lipodystrophy, more marked acral, can be caused by homozygous or compound heterozygous mutation in the gene encoding lamin A and lamin C (LMNA). MADA and Hutchinson-Gilford progeria syndrome are caused by the same gene and may represent a single disorder with varying degrees of severity. MAD patients characterized by generalized lipodystrophy (type B) affecting the face as well as extremities and severe progressive glomerulopathy present heterozygous compound mutations in the ZMPSTE24 gene. CASES PRESENTATIONS: We described a rare pedigree from Southern China, among them all three children presented with phenotypes of MADA associated progeria. The two elder sisters had developed severe mandibular hypoplasia associated progeria since the age of 1 year. The eldest sister showed a progressive osteolysis. The youngest son of 10 months showed severer lesions than those of his sisters at the same age, and presented possible muscle damage, and his symptoms progressed gradually. Three genes mutations including LMNA, ZMPSTE24 and BANF1 were tested in the family. LMNA gene sequencing revealed a homozygous missense mutation, c.1579C > T, p.R527C for all three siblings, and heterozygous mutations for their parents, whereas no mutations of ZMPSTE24 and BANF1 genes was detected among them. CONCLUSIONS: The same homozygous mutation of c.1579C > T of LMNA gene led to MADA associated progeria for the present family. The course of osteolysis for MADA is progressive.
Assuntos
Acro-Osteólise/genética , Homozigoto , Lamina Tipo A/genética , Lipodistrofia/genética , Mandíbula/anormalidades , Mutação , Progéria/genética , Povo Asiático/genética , Criança , Pré-Escolar , China , Feminino , Humanos , Lactente , Masculino , Osteólise/genética , Linhagem , Doenças Raras/genética , IrmãosRESUMO
OBJECTIVE: To explore the feasibility of surgical design for mandibular retrusion using three-dimensional software. METHODS: Three-dimensional reconstruction was performed by Mimics software based on the preoperative CT data. The model of the maxillofacial region was imported into Rapidform software for measuring the associated parameters and Geomagic software for simulation of osteotomy. The reliability of the virtual operation was validated during the surgery. RESULTS: The model of mandibular retrusion was reconstructed and successfully used to simulate the surgery. The simulation result was applied in subsequent actual surgery and good surgical outcomes were achieved. CONCLUSION: The three-dimensional software can be used to simulate the surgery for mandibular retrusion and improve the predictability and accuracy of the surgery.