Search results
Results From The WOW.Com Content Network
Children born with craniosynostosis have a distinct phenotype, i.e., appearance—observable traits caused by the expression of a condition's genes. The features of craniosynostosis' particular phenotype are determined by which suture is closed. [7] The fusion of this suture causes a certain change in the shape of the skull; a deformity of the ...
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 ...
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 ]
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.”
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]
craniosynostosis – an abnormal fusion of two or more cranial bones; radioulnar synostosis – the abnormal fusion of the radius and ulna bones of the forearm; tarsal coalition – a failure to separately form all seven bones of the tarsus (the hind part of the foot) resulting in an amalgamation of two bones; and
Craniosynostosis with anomalies of the cranial base and digits is a syndrome characterized by atypical development in a fetus's limbs and skull. People with this condition are often missing the middle parts of the second and fifth fingers, as well as their thumbs, though the thumbs may be improperly positioned.
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]