Craniosynostosis
Normal skull development
In an infant, the skull is not one solid bone, it is bony plates separated by fibrous sutures. The infant’s skull consists of the metopic suture,coronal sutures, sagittal suture, and lambdoid sutures. These sutures allow the skull to expand as an infant’s brain develops. Over time these sutures eventually fuse into the solid skull.
Diagnosis
Physicians diagnose craniosynostosis through physical examination, plain x-rays, and CT scans.
Syndromes
Craniosynostosis often occurs alone, however about 20% of cases are associated with syndromes. A syndrome is diagnosed by considering the presence of a variety of features, signs, and symptoms throughout the body. Genetic testing may be available to confirm the diagnosis of a specific syndrome. A family history of abnormal head shape can sometimes be found with genetic syndromes, though many syndromes are caused by new genetic mutations, and there is no family history of the disorder.
The most common causes of syndromic craniosynostosis are Crouzon syndrome and Apert syndrome. However, there are over 150 syndromes associated with craniosynostosis. The following table lists some of the craniosynostosis syndromes, as well as prominent additional symptoms that are found in these syndromes this is not a comprehensive list of all symptoms that could occur within each syndrome. There is considerable overlap of symptoms between many of these syndromes, and clinical evaluation by a geneticist may be necessary to determine the most appropriate diagnosis.
The following syndromes are associated with fibroblast growth factor receptors:
Name of syndrome
Other signs and symptoms (along with craniosynostosis; may not all be present)
OMIM reference
Gene
Crouzon syndrome
wide-set, bulging eyes beaked nose flat face
123500
FGFR2, FGFR3
Apert syndrome
fused fingers or toes flat midface
101200
FGFR2
Crouzonodermoskeletal syndrome
wide-set, bulging eyes beaked nose flat face dark, velvety skin folds spine abnormalities benign growths in the jaw
134934
FGFR3
Jackson-Weiss syndrome
enlarged, bent big toes flat midface
123150
FGFR1, FGFR2
Muenke syndrome
coronal synostosis skeletal abnormalities of the hands or feet hearing loss
602849
FGFR3
Pfeiffer syndrome
broad, short thumbs or big toes webbed or fused fingers or toes
101600
FGFR1, FGFR2
In addition, the following syndromes have been identified:
Name of syndrome
Other signs and symptoms (along with craniosynostosis; may not all be present)
OMIM reference
Gene
Loeys-Dietz syndrome
wide-set eyes split uvula or cleft palate arterial tortuosity aneurysms
609192
TGFBR1
Saethre-Chotzen syndrome
facial asymmetry low frontal hairline drooping eyelids webbed fingers or toes broad big toes
101400
TWIST1
Shprintzen-Goldberg syndrome
bulging eyes flat face hernias long, thin fingers developmental delay mental retardation
182212
FBN1
Differential diagnosis
A separate cause of abnormal head shape is positional plagiocephaly flattened or misshapen areas on the head that may develop due to sleeping position. While the appearance may look rather similar to craniosynostosis, the distinction is important. Positional plagiocephaly does not require surgery treatment can be as simple as occasionally repositioning the child’s head while sleeping or, in some cases, wearing a cranial band to mold the skull. It has recently been discovered that using certain prescription drugs during pregnancy may lead to this disorder. (sertraline)
A child wearing a cranial helmet.
Treatment
Surgery is typically used to separate the fused sutures of the skull as well as to reshape the skull. To treat the cosmetic troubles, a combination of orthodontic and orthognathic surgery can be used to relieve some of the midface deficiency.
Typical surgery begins with a zigzag incision from ear to ear across the top of the head. The scar left by this type of incision makes the hair look more natural than that left by a straight incision would. Leroy clips are typically used to curtail bleeding, as cauterization would not result in an aesthetically pleasing result upon healing. Once the scalp is peeled back, pilot holes are drilled through the skull. These pilot holes are then connected, separating the skull into several pieces. Once reshaped, these pieces are placed back on the head (typically in an altered configuration) and held together by a combination of dissolving sutures, plates, and screws. These plates and screws are typically made of a copolymer composed of polyglycolic and polylactic acid and will break down into water and carbon dioxide within a year. Demineralized bone matrix or bone morphogenetic proteins are often used to fill gaps left by the expanded skull, encouraging the body to grow new bone in a process called intramembranous ossification. Once the hemostatic scalp clips are removed, sutures are again used to close the incision.
Newer approaches include minimally invasive endoscopic assisted removal of the closed suture followed by treatment with custom made molding helmets. These surgeries are associated with significantly less blood loss, swelling, hospital length of stay and pain. The results have been excellent in the majority of patients treated this way. Endoscopic surgery, however, is indicated only for very young infants(< 6 months of age). Older children require the more extensive surgery described above.
Epidemiology
The incidence of craniosynostosis has been described as 1 in 2500 live births. The earliest known case is a child dated to 530,000 BP found in Atapuerca Spain.
See also
Cephalic disorder
Positional plagiocephaly (flattened head syndrome)
References
^ Silva, Sandra; Philippe Jeanty (1999-06-07). “Cloverleaf skull or kleeblattschadel”. TheFetus.net. MacroMedia. http://www.thefetus.net/page.php?id=340. Retrieved 2007-02-03.
^ a b c d Kabbani H, H; Raghuveer TS (2004-06-15). “Craniosynostosis”. American Family Physician 69 (12): 286370. PMID 15222651. http://www.aafp.org/afp/20040615/2863.html.
^ Liu Y, Kadlub N, da Silva Freitas R, Persing JA, Duncan C, Shin JH (January 2008). “The misdiagnosis of craniosynostosis as deformational plagiocephaly”. J Craniofac Surg 19 (1): 1326. doi:10.1097/SCS.0b013e3181655314 (inactive 2010-01-07). PMID 18216678. http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?an=00001665-200801000-00022.
^ Stenirri S, Restagno G, Ferrero GB, et al. (October 2007). “Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis”. Clin. Chem. 53 (10): 176774. doi:10.1373/clinchem.2007.089292. PMID 17693524. http://www.clinchem.org/cgi/pmidlookup?view=long&pmid=17693524.
^ Gracia A, Arsuaga JL, Martnez I, Lorenzo C, Carretero JM, Bermdez de Castro JM, Carbonell E. (2009). Craniosynostosis in the Middle Pleistocene human Cranium 14 from the Sima de los Huesos, Atapuerca, Spain. Proc Natl Acad Sci U S A. 2106(16):6573-8. PMID 19332773
External links
Information and support Cranio Kids- Families sharing and supporting
Information and support Childrens Craniofacial Association
Overview of craniosynostosis from Children’s Hospital Boston
Craniosynostosis comprehensive overview (American Family Physician)
Single Suture Craniosynostoses (The Craniofacial Center in Dallas, Texas)
Craniosynostosis Photo Gallery at the University of Missouri Children’s Hospital
Information from CAPPS
Information from Headlines]
GeneReview/NIH/UW entry on FGFR-Related Craniosynostosis Syndromes
v d e
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65-Q76, 754-756.3)
Limb/
dysmelia
Upper
clavicle/shoulder: Cleidocranial dysostosis Sprengel’s deformity Wallis Zieff Goldblatt syndrome
hand deformity: Madelung’s deformity Clinodactyly Oligodactyly Polydactyly
Lower
hip: Dislocation of hip/Hip dysplasia Upington disease Coxa valga Coxa vara
knee: Genu valgum Genu varum
foot deformity: Club foot Flat feet Pes cavus Rocker bottom foot
Either/both
dactyly/digit: Polydactyly/Syndactyly (Webbed toes) Arachnodactyly Cenani Lenz syndactylism Ectrodactyly Brachydactyly
reduction deficits/limb: Acheiropodia ectromelia (Phocomelia, Amelia, Hemimelia)
multiple joints: Arthrogryposis Larsen syndrome Rapadilino syndrome
Craniofacial
Craniosynostosis: Scaphocephaly Oxycephaly Trigonocephaly
Craniofacial dysostosis: Crouzon syndrome Hypertelorism Hallermann-Streiff syndrome Treacher Collins syndrome
other: Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose
Other axial
spine: spinal curvature (Scoliosis) Klippel-Feil syndrome Spondylolisthesis Spina bifida occulta
ribs: Cervical rib Bifid rib
sternum: Pectus excavatum Pectus carinatum
joint navs: anat, non-congenital arthropathies/deformities/dorsopathies/soft tissue arthropathy/congenital, eponymous signs, proc
Categories: Musculoskeletal disorders | Congenital disorders | Congenital disorders of musculoskeletal system | Skeletal disorders | Pediatrics | Oral and maxillofacial surgeryHidden categories: Pages with DOIs broken since 2010
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