Apert's syndrome

Overview said, and pointed tip (toe) abnormalities; Fingers (toe) cusp syndrome. Cause pathogenesis past that the disease is bone-yim, rickets, amniotic fluid of the cable oppression, congenital syphilis, Rubella, and other external cause, that is autosomal dominant genetic disorder. Generally sporadic. Age parents tend to be large, particularly the father. Clinical manifestations (1) head-shaped deformity cusp sharp and short, tall forehead, the coronal suture early healing, increase the longitudinal axis of the skull, large skull portal forward on uplift. Orbital junior, exophthalmos, two distance increases, strabismus. Nasal small-bian, was hooked nose. Maxillary hypoplasia, more prominent, mouth covered, sometimes I covered separatism, was the particular appearance. (2) refers acromegaly malformation (toe) mostly symmetrical, in varying degrees. Fusion skin or completely bony fusion; Some integration or complete fusion, section 2, 3, 4 digits (toe) the most complete integration see. In addition metacarpal shorter, and the integration of the radial bone, joint activities restricted. (3) patients with various degrees of mental retardation, and the lack of specific brain pathology. Palilledema see less, see more of optic atrophy. Differential diagnosis (1) Crouzon's syndrome is also called hereditary head of facial bone hypoplasia, for a special type of linking early closure of the skull. Many genetic family history. Craniofacial deformity characterized by the majority skull slit premature closure, the maxillary poor and hydrocephalus, and his skull around the short track. Isolation and two outside strabismus, nose end retreat, nose arch widened, the orbital margin narrowed, prominent eye forward, and bottom teeth were anti-occlusion. In addition to the head and face deformities, often have headaches and brain squeeze sign. (2) head deformity due to fetal period of harmful environmental factors. Occasionally found in autosomal recessive inheritance. The Disease of the brain and skull growth are obstacles to a fully-developed brain weight not more than 1,000 grams, the largest cranial circumference generally not more than 47 centimeters. Specific skull shape also changes the amount and the occipital flat, narrow, slightly tapered top. and development of a complete face strong control bone formation. Thickening of the scalp, the hair thicker. Short stature, intellectual development stay in the idiot stage.