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Radiographic analysis by performing a computed axial tomographic scan is the gold standard for diagnosing craniosynostosis. [58] [59] Plain radiography of the skull may be sufficient for diagnosing a single suture craniosynostosis and should therefore be performed, [58] [59] but the diagnostic value is outweighed by that of the CT-scan. [60]
Scaphocephaly or sagittal craniosynostosis is a type of cephalic disorder which occurs when there is a premature fusion of the sagittal suture. Premature closure results in limited lateral expansion of the skull , resulting in a characteristic long, narrow head. [ 1 ]
Special views focusing on the orbit of the eye may be taken to investigate concerns relating to the eye. [8] CT scans are used by physicians specializing in treating the eye (ophthalmologists) to detect foreign bodies (especially metallic objects), fractures, abscesses, cellulitis, sinusitis, bleeding within the skull (intracranial bleeding), proptosis, Graves disease changes in the eye, and ...
Craniosynostosis, a condition in which the sutures of the head (joints between the bones of the skull) prematurely fuse and subsequently alter the shape of the head, is seen in multiple conditions, as listed below. The level of involvement varies by condition and can range from minor, single-suture craniosynostosis to major, multisutural ...
Acrocephalosyndactyly is usually diagnosed after birth, although prenatal diagnosis is sometimes possible if the genetic variation is present in family members, as the conditions are typically inherited in an autosomal dominant pattern [1] Treatment often involves surgery in early childhood to correct for craniosynostosis [7] and syndactyly. [8]
The diagnosis of Muenke syndrome is suspected bases on abnormal skull shape and a diagnosis of coronal craniosynostosis. In 2006, Agochukwu and her colleagues concluded that “A distinct Muenke syndrome phenotype includes: uni or bilateral coronal synostosis, midface hypoplasia, broad toes, and brachydactyly.”
Craniosynostosis and dental anomalies (CRSDA, also known as Kreiborg-Pakistani syndrome) is an autosomal recessive syndrome characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies. Dental anomalies seen in this condition include malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth.
The observations of these features allow for a diagnosis of BGS to be made, as these symptoms characterize the syndrome. [4] Craniosynostosis involves the pre-mature fusion of bones in the skull. [1] The coronal craniosynostosis that is commonly seen in patients with BGS results in the fusion of the skull along the coronal suture. [5]