Examination methods of craniofacial deformities

Pediatric craniofacial malformation syndrome (Hallermann-Streiffsyndrome) is also known as H-S syndrome, mandibular, ocular, facial, and craniofacial hypoplasia syndrome, mandibular, ocular, facial, and craniofacial hypoplasia, and sparse hair syndrome (dyscephaliaoculomandibularis- hypotrichosissyndrome), cephalofacial mandibular and ocular dysmorphism syndrome, congenital cataractacongenitahypotrichosissyndrome, congenital cataractacongenitahypotrichosissyndrome, Ullrieh-Fremety-Dohna syndrome, Frangois syndrome, Audry syndrome type I, Fremery-Dohna syndrome, etc. The syndrome is characterized by cephalofacial deformities, congenital cataracts, and hair thinning. The syndrome is often accompanied by other malformations, such as spinal deformities, osteoporosis, homogeneous dwarfism, and mental retardation. Examination: 1, head and face hypoplasia deformity at birth, that is, boat-shaped head, triangular head, short small head and other deformities, some may have open fontanelle, sagittal and herringbone slit and brain hypoplasia, facial narrow, hawk’s nose, small jaw, small mouth cleft, earworm abnormalities, etc., so also known as bird face deformity syndrome. 2.Ocular malformation congenital cataract is a characteristic lesion, mostly bilateral, which can be spontaneously ruptured and absorbed. It can also be without lens. Next, strabismus, nystagmus, microphthalmia, microcornea, blue sclera, iris defect, macular degeneration, etc. may also appear. 3. Hair and skin abnormalities such as sparse and absent eyebrows, eyelashes, axillary hair and pubic hair, and baldness on the occipital and frontal areas. Sclerotic atrophic skin changes may occur, often showing skin atrophy and roughness, and also leukoplakia and vitiligo. The diagnosis of this sign is based on three major features such as craniofacial deformities, congenital cataracts, and sparse hair. Routine laboratory tests generally have no specific findings. X-rays, ultrasound and brain CT should be done. x-ray radiographs show forward displacement of the mandibular joint (up to 2 cm in obvious cases), sparse mandibular bone and complete disappearance of the condylar process.