Trichorhinophalangeal syndrome (TRPS) type I is characterized by slowly progressing systemic osseous dysplasia, exhibiting craniofacial and other skeletal deformities. However, there have been few reports describing this syndrome after undergoing orthognathic surgery. In this report, we present a patient with TRPS I who successfully underwent orthognathic surgery. In addition, we examined the s...

Partial trisomy distal 4q (denoted 4q+) is a human chromosomal disorder caused by duplication of the distal end of the long arm of chromosome 4 (Chr4). This disorder manifests typical phenotypes, including craniofacial, renal, heart and thumb developmental defects. Although these clinical features are likely caused by a dosage imbalance in the gene network involving the trisomic region, the cau...

fryns-aftimos syndrome is a rare autosomal dominant disorder characterized by craniofacial signs, anterior neuronal migration disorder (pachygyria, lissencephaly), skeletal deformities and mental retardation. we describe a five-year-old boy with abnormal facial features (hypertelorism, ptosis, high arched palate), skeletal problems (short stature, short fingers, flat feet) and mild intellectual...

monosomy 21 is a rare chromosomal abnormality which is persented in mosaic or homogenous forms.the latter form which is very rare,is determined by intra uterin growth retardation)IUGR),failure to thrive (FTT),prominent craniofacial,skeletal deformities and differnt degrees of delay in psychomotor activities.we report an eight years old boy who was admitted in pediatric ward(hospital No 1 of Ker...

Rather than treating nasal, maxillary, and soft tissue deformities as separate problems, the author has approached the deformities as a single aesthetic and functional unit, the nasal-maxillary complex. This complex includes the maxilla, nose, and overlying soft tissues, including the upper lip. Successful reconstruction is based on a thorough knowledge of the underlying anatomy and physiology ...

Changes or disruptions in the process of mandibular development can happen in the early stages of formation, and the malformations may be isolated or part of a syndrome. Hypoplasia or aplasia of the mandibular condyles indicates underdevelopment or non-development and is associated with multiple craniofacial abnormalities. Patients who experience these congenital deformities may benefit from re...