What tests should be done for pediatric craniofacial malformation syndrome?

Pediatric craniofacial malformation syndrome is also known as H-S syndrome, mandibular, ocular, facial, and cranial hypoplasia syndrome, mandibular, ocular, facial, and cranial hypoplasia, sparse hair syndrome, cephalofacial mandibular and ocular malformation syndrome, congenital cataract bird-facial malformation syndrome, congenital cataract and sparse hair syndrome, 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. Examination items: Urine routine: Urine routine is a preliminary examination that should not be neglected in clinical practice. Many kidney lesions can appear early with proteinuria or with fractions in the urine sediment. Once urinary abnormalities are detected, it is often the first indication of kidney or urinary tract disease and is often an important clue to the nature of the pathological process. Cranial ultrasound examination: 1, B-type ultrasound cranial examination method is mainly used for children within 2 years of age whose fontanelle is not closed, through the fontanelle as a “sound window” to scan. 2, transcranial color Doppler imaging through the temporal window, occipital window, orbital window to explore the cerebral arteries, according to the intracranial vascular flow velocity, frequency width, flow direction abnormalities or audio abnormalities, etc., applied to the diagnosis of cerebrovascular disease and etiological classification. EEG: Its application is no longer limited to neurological diseases, but has been widely used in the monitoring of critically ill patients in various departments, anesthesia monitoring, and psychological and behavioral studies. In addition to routine EEG, there are long-term EEG monitoring, video EEG monitoring, sleep monitoring and digital computer analysis. Cranial CT examination: It can clearly show the anatomical relationship and specific brain tissue structure in different cross-sections of the skull. Thus, it greatly improves the detection rate of lesions and the accuracy of diagnosis. Cranial CT examination is important for the diagnosis of most diseases in the skull, cranium and scalp (including trauma, tumor, inflammation, vascular lesions, poisoning, degenerative and metabolic diseases, etc.). Blood tests: Blood tests are the detection and analysis of the quantity and quality of the three systems of the blood’s tangible components, namely red blood cells, white blood cells and platelets. These three systems, together with plasma, make up the blood, which flows constantly in the body’s circulatory system and participates in the body’s metabolism and every functional activity, so blood plays an important role in ensuring the body’s metabolism, functional regulation and the balance of the body’s internal and external environment.