Isolated synostotic plagiocephaly (ISP) is a congenital disorder caused by a premature unilateral closure of either the coronal or lambdoid suture. Premature coronal and lambdoid synostosis result in anterior and posterior ISP, respectively. ISP must be rigorously differentiated from syndromic and positional plagiocephaly forms. Diagnosis rests on clinical observations and imaging techniques. Genetic testing may also be considered.
ISP-associated cranial deformities can lead to severe consequences such as increased intracranial pressure. Hence, early surgical corrections are usually indicated to prevent long-term cranial and cerebral damage.
Isolated synostotic plagiocephaly (ISP) presents as an oblique head as a consequence of an anomalous unilateral fusion of the coronal or the lambdoid suture . In both cases, a palpable ridge will develop over the site of premature suture fusion . Unilateral coronal synostosis is associated with anterior ISP while posterior ISP is caused by an early fusion of the lambdoid suture . ISP affects approximately 1/100000 infants .
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   .
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   .
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  .
Jaw & Teeth
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. [symptoma.com]
Marked malocclusion of the alveolar process may occur with severe jaw deformities. Treatment is usually not needed except in most severe cases. Figure 171.1. Facial molding. The right jaw appears sharper while the left is fuller. [pediatricneuro.com]
[…] widening, occipital flattening Features of Pfeiffer syndrome 1 in 100,000 AD inheritance Mutations FGFR1 - 3 Features -Turribrachycephaly/ Kleeblattschadel -BROAD thumbs or great toes -Midface hypoplasia - BEAK nose -Mild cutaneous syndactyly -Class III malocclusion [quizlet.com]
B 24, 25 Complications The major complications associated with uncorrected craniosynostosis include increased intracranial pressure, asymmetry of the face, and malocclusion. [aafp.org]
Infants with Crouzon or Apert syndromes face many similar potential clinical problems such as proptosis, shallow orbits, hypertelorism, strabismus, malocclusion, and hearing loss; many of these features are directly associated with bilateral coronal synostosis [eyewiki.aao.org]
[…] field / hemianopsia / hemianopia / scotoma / visual peripheral rim - Strabismus / squint Occasional - Autosomal dominant inheritance - Hearing loss / hypoacusia / deafness - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly [csbg.cnb.csic.es]
Associated conditions include uterine constraint such as multiple-infant birth, oligohydramnios, uterine malformation, macrocephaly, cervical spine anomaly or brain injury with asymmetrical spasticity, and birth injury associated with forceps or vacuum-assisted [neupsykey.com]
This included Crouzon’s syndrome and macrocephaly. No preliminary investigations are expected for referral to the centre particularly if it delays the referral. [imj.ie]
Measurement of the head circumference is vital to detect associated microcephaly or macrocephaly (caused by hydrocephalus). [aafp.org]
In addition to these facial features, he also had brachydactyly. One of his daughters (Fig. 1, 111-6) and her son (Fig. 1, IV-5) had slight mid-face hypoplasia in association with brachycephaly. [docslide.us]
It started to develop, albeit slowly, during the first half of the 20th century, mendelian inheritance was studied in a number of important disorders such as albinism, brachydactyly, and hemophilia. [wikivisually.com]
Teratology 1976;14:185-194 Riggs W Jr, et al: Neonatal Hyperthyroidism with accelerated skeletal maturation, craniosynostosis, and brachydactyly. Pediatr Radiol 1972;105:621-625 Table 1. [skullbaseinstitute.com]
[…] exophthalmus *protopsis 【眼球粗動】*ocular flutter 【眼球軟化症】*ophthalmomalacia 【眼球ミオクローヌス】*ocular myoclonus 【眼筋麻痺】*ocular paralysis *ophthalmoplegia ⇒外眼筋麻痺 【眼瞼アテローム】【眼瞼粉瘤】*blepharoatheroma 【眼瞼炎】*palpebritis *blepharitis *tarsitis ⇒脂漏性眼瞼炎 【眼瞼下垂症】*eyelid ptosis *blepharoptosis [medo.jp]
*proctoptosis *prolapsus ani[L] (＝肛門脱) 【脱出症】*prolapse *prolapsus[L] 【脱水症】*dehydration *hypohydration 【脱腸】*enterocele (＝腸ヘルニア) 【脱毛】*loss of hair 【脱毛症】*alopecia (弾) 【弾性線維症】*elastosis 【弾発指】*trigger finger (＝バネ指) (談) 【談話困難症】*dyslogia (デ) 【デング出血熱】*Dengue [medo.jp]
- Visual Impairment
vomiting, visual disturbance, bulging of the anterior fontanel, altered mental status, papilledema and headache.  The main risks of prolonged elevated intracranial pressure may include cognitive impairment and impaired vision through prolonged papilledema [en.wikipedia.org]
Face, Head & Neck
- Facial Hemihypertrophy
[…] structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Frontal bossing / prominent forehead - Plagiocephaly Frequent - Abnormal eye movements / oculomotor disorder - Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral [csbg.cnb.csic.es]
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 .
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. On the other hand, PP produces anteriorly malpositioned ears . Syndromic plagiocephaly is usually accompanied by developmental retardation .
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  .
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 . [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]
- 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.
- Biggs WS. Diagnosis and Management of Positional Head Deformity. Am Fam Physician. 2003; 67(9):1953-1956.
- 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.
- Bruneteau RJ, Mulliken JB. Frontal plagiocephaly: synostotic, compensational, or deformational. Plast Reconstr Surg. 1992;89(1):21–31.
- 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.
- Johnson D, Wilkie AO. Craniosynostosis. Eur J Hum Genet. 2011;19(4):369–376.
- 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.
- 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.
- 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.
- 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.
- Davis B, Moon R, Schas H, Ottolini M. Effects of sleep position on infant motor development. Pediatrics. 1998;102(5):1135–1140.
- de Chalain T, Park S. Torticollis associated with positional plagiocephaly: a growing epidemic. J Craniofac Surg. 2005;16(3):411–418.
- Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Genetics of craniosynostosis. Semin Pediatr Neurol. 2007;14(3): 150–161.
- Robinson S, Proctor M. Diagnosis and management of deformational plagiocephaly. J Neurosurg Pediatr. 2009;3(4):284–295.