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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, Philadelphia type is a rare autosomal dominant syndrome characterized by sagittal craniosynostosis (scaphocephaly) and soft tissue syndactyly of the hands and feet. This condition is considered a form of acrocephalosyndactyly .
Muenke syndrome, also known as FGFR3-related craniosynostosis, [1] is a human specific condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face.
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 ...
Pfeiffer syndrome is caused by mutations in the fibroblast growth factor receptors FGFR1 and FGFR2. The syndrome is grouped into three types: type 1 (classic Pfeiffer syndrome) is milder and caused by mutations in either gene; types 2 and 3 are more severe, often leading to death in infancy, caused by mutations in FGFR2 .
Trigonocephaly seems to be the most compliant form of craniosynostosis for surgery. [22] Because of standardization of current surgical approaches there is no surgical mortality and complications are few to none. [2] [41] [42] The simple suturectomy is presently insufficient to adjust the complicated growth restrictions caused by metopic ...
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome (HCDPH1, also known as Sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus, Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus, Braddock-Jones-Superneau syndrome, or simply Hydrocephalus, autosomal dominant) is an autosomal dominant syndrome characterized by sagittal craniosynostosis ...
The distinctive head shape seen in kleeblattschaedel is caused by the closure of the sagittal, coronal, and lambdoid sutures, with subsequent bulging of the cranial contents leading to a trilobate head shape. [7] The condition is also caused by absence of the coronal and lambdoid sutures. [10] Conditions with kleeblattschaedel include: [11] [12]