Isolated synostotic plagiocephaly (ISP) presents as an oblique head as a consequence of an anomalous unilateral fusion of the coronal or the lambdoid suture [1]. In both cases, a palpable ridge will develop over the site of premature suture fusion [2]. Unilateral coronal synostosis is associated with anterior ISP while posterior ISP is caused by an early fusion of the lambdoid suture [3]. ISP affects approximately 1/100000 infants [4].

The genetic role in ISP is still in the focus of medical research. Rare mutations in the FGFRs, TWIST1, LRIT3, ALX4, IGFR1, EFNA4, RUNX2, and FREM1 genes may play a role for isolated ISP [3] [5] [6].

Anterior ISP-associated deformities include a flattening of the frontal bone and of the ipsilateral orbital rim in combination with a contralateral frontal bossing. In 50-60% of cases, strabismus is found as a consequence of anatomical changes in the orbital roof. Anterior ISP can also lead to a deviation of the skull base, a positional change of orbits, eyebrow and ear asymmetries, as well as mandibular deviations with malocclusion [3] [7] [8].

Posterior ISP leads to a trapezoid head shape with occiput flattening and malpositioned ears. Moreover, early lambdoid suture synostosis is linked to debilitating changes in the posterior fossa. Most notable findings in this context include an Arnold-Chiari malformation type 1 and a fusion of the jugular foramen. Thus, posterior ISP predisposes the patient for intracranial hypertension [9] [10].

• Developmental Delay

  delay - acanthosis nigricans Thanatophoric dysplasia type 1 Thanatophoric dysplasia type 2 Kallmann syndrome Precursor T-cell acute lymphoblastic leukemia Precursor B-cell acute lymphoblastic leukemia Acute myeloid leukemia with t(8;21)(q22;q22) translocation [csbg.cnb.csic.es]

  If this condition is not treated, it causes pressure inside the head along with head deformity, developmental delay and, in some cases, seizures. Craniosynostosis can be classified as non-syndromic and syndromic. [rileychildrens.org]

  Developmental delay is common, and intellectual disabilities are seen in 50-85 percent of cases. [cincinnatichildrens.org]

  […] sporadic but can be AD Mutations of FGFR2 ICP elevation in up to 83% Intelligence: normal to MR Features: -Acne -Syndactyly -Short nose with depressed bridge -Dental crowding -Hypertelorism, shallow orbits, downslanting palpebral fissures -Cleft palate -Developmental [quizlet.com]

  If left untreated, this can cause increased pressure within the skull (intracranial pressure) and can potentially result in cognitive impairment or developmental delays. [rarediseases.org]

• Unconsciousness

  […] vilitigo vulgaris[L] 【尋常性疣贅】*verruca vulgaris[L] 【尋常性痒疹】*prurigo vulgaris[L] 【尋常性狼瘡】*lupus vulgaris[L] (靭) 【靭帯炎】*syndesmitis 【靭帯疾患】【靭帯病】*desmopathy 【靭帯断裂】*desmorrhexis 【靭帯痛】*desmodynia 【靭帯内妊娠】*intraligamentary pregnancy (人) 【人畜共通感染症】*zoonosis 【人事不省】*unconsciousness [medo.jp]

• Vomiting

  Do not give antibiotics the morning of the surgery as they can cause nausea and vomiting. If you have questions about your child's medication, please call us at 513-636-4726. [cincinnatichildrens.org]

  Increased pressure within the skull can also cause vomiting, headaches, and decreased appetite. In some rare cases, additional symptoms can develop including seizures, misalignment of the spine, or eye abnormalities. [rarediseases.org]

  Elevated ICP [ edit ] Symptoms of increased intracranial pressure – such as headache and vomiting – should be questioned after. [20] [21] An elevation of ICP can be present in 4 to 20% of the children where only a single suture is affected. [20] [21] [en.wikipedia.org]

  We have found that giving children a variation of Tylenol and ibuprofen intravenously, instead of orally, significantly reduces the risk of postoperative nausea and vomiting (Publication #58 ). [thecraniofacialcenter.com]

  /*vomition/*vomitus *emesis (カ) 【カタル性胃炎】*catarrhal gastritis 【カタル性炎】*catarrhal inflammation 【カタル性舌炎】*catarrhal glossitis *glossitis catarrhalis[L] 【カフェオーレ斑】*cafe-au-lait spot 【カポジ肉腫】*Kaposi's sarcoma 【カリウム血症】*kalemia 【カリウム欠乏症】*kaliopenia 【カリニ肺炎】*pneumocystis [medo.jp]

• Nausea

  Do not give antibiotics the morning of the surgery as they can cause nausea and vomiting. If you have questions about your child's medication, please call us at 513-636-4726. [cincinnatichildrens.org]

  We have found that giving children a variation of Tylenol and ibuprofen intravenously, instead of orally, significantly reduces the risk of postoperative nausea and vomiting (Publication #58 ). [thecraniofacialcenter.com]

  […] neoplasm (＝悪性腫瘍) 【悪性組織球症】*malignant histiocytosis (略 MH) 【悪性中皮腫】*malignant mesothelioma 【悪性貧血】*pernicious anemia 【悪性黒子】*lentigo maligna[L] 【悪性黒子黒色腫】*lentigo maligna melanoma (略 LMM) 【悪性傍神経節腫】*malignant paraganglioma 【悪性リンパ腫】*malignant lymphoma 【悪心】*nausea [medo.jp]

• Abdominal Pain

  pain *abdominalgia 【腹部外傷】*abdominal trauma 【腹部狭心症】*abdominal angina 【腹部出血】*abdominal hemorrhage *abdominal bleeding 【腹部腫瘍】*abdominal tumor 【腹部疝痛】*celialgia 【腹部大動脈瘤】*abdominal aortic aneurysm 【腹部癲癇】*abdominal epilepsy 【腹部ヘルニア】*laparocele (＝腹壁瘤) 【腹部膨大】 [medo.jp]

• Hearing Problem

  Ear infections, palate abnormalities, and hearing problems were more common in complex craniosynostosis patients. [nature.com]

• Hearing Impairment

  impairment *[＝聴力損失] hearing loss *bradyacusia *hypacusis (ニ) 【ニコチン性口内炎】*nicotinic stomatitis 【ニューモシスチス症】*pneumocystosis 【ニワトリ歩行】*steppage gait (＝鶏歩) (肉) 【肉眼的膿尿】*macropyuria 【肉芽腫】*granuloma 【肉芽腫症】*granulomatosis 【肉芽腫性口唇炎】*cheilitis granulomatosa 【肉腫】* [medo.jp]

• Torticollis

  Other factors which may increase the risk of deformational plagiocephaly include the following: Muscular torticollis. One cause of deformational plagiocephaly may be muscular torticollis. [stanfordchildrens.org]

  Positional plagiocephaly (PP) often occurs concomitantly with torticollis and produces stronger facial asymmetries; ISP is most easily identified by the posterior malpositioning of the ear on the affected side. [symptoma.com]

  Infants with torticollis require physical therapy to stretch and straighten the neck. In such cases, head flattening typically improves through successful treatment of the torticollis. [rileychildrens.org]

  Conversely, early developmental disturbances of vision often disrupt ocular motor control systems, giving rise to complex disorders such as nystagmus, strabismus, and torticollis. [books.google.com]

  […] examination. ( 21720819 ) Pelo S....Di Rocco C. 2011 7 Nasal and ethmoidal alterations in anterior synostotic plagiocephaly. ( 21403535 ) Marianetti T.M....Pelo S. 2011 8 Synostotic plagiocephaly causing pseudoparalysis of the superior oblique and ocular torticollis [malacards.org]

• Cranial Asymmetry

  The use of computed tomography (CT) imaging is only indicated in case of an ISP suspicion, particularly if infant repositioning does not improve cranial asymmetry over weeks. [symptoma.com]

  Neurosurgery 1980;6:39-44 Lohse DC, et al: Cranial asymmetry and lambdoid synostosis in a sibship. Neurosurgery 1985;16:836-838 Moss ML: Functional anatomy of cranial synostosis. [skullbaseinstitute.com]

• Psychomotor Retardation

  retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly - Mid-facial hypoplasia / short / small midface [csbg.cnb.csic.es]

• Dyslexia

  (略 AHD) 【動脈弛緩症】*arteriochalasis 【動脈疾患】【動脈症】*arteriopathy 【動脈周囲炎】*periarteritis 【動脈内膜炎】*endarteritis 【動脈軟化症】*arteriomalacia 【動脈破裂】*arteriorrhexis 【動脈離開】*arteriodialysis 【動脈瘤】*aneurysm 【動脈瘤様骨嚢胞】*aneurysmal bone cyst (＝脈瘤性骨嚢胞) (読) 【読字障害】【読字不能】*alexia *dyslexia [medo.jp]

• Delayed Milestone

  These patients will also have delayed milestones. [ijps.org]

ISP diagnosis relies on clinical findings and a thorough analysis excluding other potential causes of plagiocephaly. Plagiocephaly is clinically diagnosed by the typical formation of a parallelogram defined by ear and maxilla positions [1].

Positional plagiocephaly (PP) often occurs concomitantly with torticollis and produces stronger facial asymmetries [1] [11] [12]; ISP is most easily identified by the posterior malpositioning of the ear on the affected side. On the other hand, PP produces anteriorly malpositioned ears [2]. Syndromic plagiocephaly is usually accompanied by developmental retardation [13].

The use of computed tomography (CT) imaging is only indicated in case of an ISP suspicion, particularly if infant repositioning does not improve cranial asymmetry over weeks. CT findings can also be used in preparation for a surgical intervention aimed to avert an increased risk of intracranial hypertension (ICH) or to correct the plagiocephaly-caused malocclusion. If ICH has already developed, appropriate immediate countermeasures are indicated [1] [14].

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]

Treatments Treatments Treatment for head shape abnormalities varies depending on the specific anomaly and its cause: Positional plagiocephaly. [rileychildrens.org]

Treatment for deformational plagiocephaly Specific treatment will be determined by your child's doctor based on the severity of the deformational plagiocephaly. [stanfordchildrens.org]

The closing chapter addresses prognosis and complications. [books.google.com]

Treatment and prognosis Treatment is often with a cranioplasty. Abnormal intracranial pressure may affect neurocognition. Promoted articles (advertising) [radiopaedia.org]

The severity of the cranial bone deformations, associated systemic abnormalities and age of diagnosis may yield variable treatment outcomes and overall prognosis [6]. [eyewiki.aao.org]

we will not need to conduct further diagnostic exams, and we can explain to the parents the developmental dimension of the clinical features addressing the case to a pediatric physiotherapeutic treatment. 5.1.2 Developmental Risks of PPP PPP has a prognosis [musculoskeletalkey.com]

Prognosis and outcomes Non-syndromic craniosynostosis patients if operated early have very good post-operative outcome and the need for the second surgery is minimal. [ijps.org]

Pediatrics Keywords Cranial Sutures--pathology; Cranial Sutures--physiopathology; Craniosynostoses--etiology; Frontal Bone--pathology; Frontal Bone--physiopathology; Sphenoid Bone--pathology; Sphenoid Bone--physiopathology; Synostosis--complications; [hsrc.himmelfarb.gwu.edu]

In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and [books.google.com]

This suggests a yet-to-be-identified single-gene, autosomal dominant genetic etiology. [nature.com]

The etiology has been attributed to genetic factors and primary disorders of bone growth, in addition to secondary effects of other diseases and modulators of the in utero environment. [skullbaseinstitute.com]

50% of syndromic - 2% of isolated -More than 130 syndromes involve craniosynostosis -Etiology syndromic: mutation in fibroblast growth factor receptor (FGFR) most common What are the 5 most common syndromic craniosynostosis conditions and their inheritance [quizlet.com]

Information is first presented on classification, epidemiology and etiopathogenesis. [books.google.com]

[…] plagiocephaly Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Linguistic Variant - Portuguese, Brazil) 2015AB LNC-RU-RU (LOINC Linguistic Variant - Russian, Russia) 2015AB LNC-TR-TR (LOINC Linguistic Variant - Turkish, Turkey) 2015AB LNC-ZH-CN (LOINC Linguistic Variant - Chinese, China) 2015AB MCM (Glossary of Clinical Epidemiologic [doctor.am]

Epidemiology. 1995;6:306–10. 11. Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, et al. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet. 1994;8:269–74. 12. [aafp.org]

International Journal of Epidemiology. 18 (4): 891–9. doi : 10.1093/ije/18.4.891. PMID 2621027. ^ Jentink J, Loane MA, Dolk H, Barisic I, Garne E, Morris JK, de Jong-van den Berg LT (June 2010). [en.wikipedia.org]

Regarding the pathophysiologic mechanism of PPP, it is admitted that external force applied consistently to a specific region of the infant’s head deforms the skull. [neupsykey.com]

Donata Villani, Maria Vittoria Meraviglia Springer, ١٧‏/٠٧‏/٢٠١٤ - 106 من الصفحات This book provides clear guidance on the prevention, early diagnosis, and treatment of positional plagiocephaly. [books.google.com]

Hence, early surgical corrections are usually indicated to prevent long-term cranial and cerebral damage. [symptoma.com]

0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis [medicbind.com]

NCI_CTEP-SDC (Cancer Therapy Evaluation Program - Simple Disease Classification) 2015AB NCI_CareLex (Content Archive Resource Exchange Lexicon) 2015AB NCI_DCP (NCI Division of Cancer Prevention Program) 2015AB NCI_DICOM (Digital Imaging Communications [doctor.am]

This has become a problem since the introduction of putting babies on their backs to prevent Sudden Infant Death Syndrome. Craniofacial Syndromes There are a number of craniofacial syndromes that include Craniosynostosis. [craniokids.co.za]

1. Laughlin J, Luerssen TG, Dias MS. Committee On Practice Ambulatory Medicine. Prevention and Management of Positional Skull Deformities in Infants. Pediatrics. 2011;128(6): 1236–1241.
2. Biggs WS. Diagnosis and Management of Positional Head Deformity. Am Fam Physician. 2003; 67(9):1953-1956.
3. Ghizoni E, Denadai R, Raposo-Amaral CA, Joaquim AF, Tedeschi H, Raposo-Amaral CE. Diagnosis of infant synostotic and nonsynostotic cranial deformities: a review for pediatricians. Rev Paul Pediatr. 2016; 34(4): 495–502.
4. Bruneteau RJ, Mulliken JB. Frontal plagiocephaly: synostotic, compensational, or deformational. Plast Reconstr Surg. 1992;89(1):21–31.
5. Heuzé Y, Holmes G, Peter I, Richtsmeier JT, Jabs EW. Closing the gap: genetic and genomic continuum from syndromic to nonsyndromic craniosynostoses. Curr Genet Med Rep. 2014;2(3):135–145.
6. Johnson D, Wilkie AO. Craniosynostosis. Eur J Hum Genet. 2011;19(4):369–376.
7. Raposo-do-Amaral CE, Silva MP, Menon DN, Somensi RS, Raposo-do-Amaral CA, Buzzo CL. Estudo antropométrico das assimetrias craniofaciais na craniossinostose coronal unilateral. Rev Bras Cir Plast. 2011;26(1):27–31.
8. Raposo-do-Amaral CE, Raposo-do-Amaral CA, Guidi MC, Buzzo CL. Prevalência do estrabismo na craniossinostose coronal unilateral. Há benefício com a cirurgia craniofacial? Rev Bras Cir Craniomaxilofac. 2010;13(2):73–77.
9. Matushita H, Alonso N, Cardeal DD, Andrade FG. Major clinical features of synostotic occipital plagiocephaly: mechanisms of cranial deformations. Childs Nerv Syst. 2014;30(7):1217–1224.
10. Tamburrini G, Caldarelli M, Massimi L, Gasparini G, Pelo S, Di Rocco C. Complex craniosynostoses: a review of the prominent clinical features and the related management strategies. Childs Nerv Syst. 2012;28(9):1511–1523.
11. Davis B, Moon R, Schas H, Ottolini M. Effects of sleep position on infant motor development. Pediatrics. 1998;102(5):1135–1140.
12. de Chalain T, Park S. Torticollis associated with positional plagiocephaly: a growing epidemic. J Craniofac Surg. 2005;16(3):411–418.
13. Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Genetics of craniosynostosis. Semin Pediatr Neurol. 2007;14(3): 150–161.
14. Robinson S, Proctor M. Diagnosis and management of deformational plagiocephaly. J Neurosurg Pediatr. 2009;3(4):284–295.