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Isolated Synostotic Plagiocephaly

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.


Presentation

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
  • - craniosynostosis Extraskeletal myxoid chondrosarcoma Giant cell glioblastoma Gliosarcoma Hypochondroplasia Isolated cloverleaf skull syndrome Lacrimo-auriculo-dento-digital syndrome Muenke syndrome Saethre-Chotzen syndrome Severe achondroplasia - developmental[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]
  • delay and low IQ -Craniosynostosis: bicoronal synostosis significant turribrachycephaly, enlarged anterior fontanel, bitemporal widening, occipital flattening Features of Pfeiffer syndrome 1 in 100,000 AD inheritance Mutations FGFR1 - 3 Features -Turribrachycephaly[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]
  • A clinical geneticist clinically assessed all patients, and patients with associated extracranial congenital anomalies or developmental delays were excluded. Molecular analysis data were available through the ICC database.[nature.com]
Anemia
  • New chapters, expanded and updated coverage, increased worldwide perspectives, and many new contributors keep you current on the late preterm infant, the fetal origins of adult disease, neonatal anemia, genetic disorders, and more. "...a valuable reference[books.google.com]
  • It has also been reported that cephalic index is less than 2-3 in individual with sickle cell anemia than normal individual. Material & Methods: The present study was carried out with 320 (160 male & 160 female) medical students of Dr.[scinapse.io]
  • 】*malignant ameloblastoma 【悪性高熱症】*malignant hyperthermia 【悪性黒色腫】*malignant melanoma (略 MM) 【悪性腫瘍】*malignant tumor *malignancy 【悪性新生物】*malignant 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[medo.jp]
Surgical Procedure
  • procedures safely and efficiently.[books.google.com]
  • Elsevier Health Sciences, ٢٠‏/١١‏/٢٠١٤ - 217 من الصفحات This issue of Facial Plastic Surgery Clinics addresses the major surgical procedures in pediatric facial reconstruction that deal with congenital disorders and defects as well as trauma and tumors[books.google.com]
  • Even though there are many surgical options available, depending on the type of synostosis, the most common surgical procedure is generally performed by a plastic surgeon in conjunction with a neurosurgeon.[craniokids.co.za]
Pain
  • Pain is generally not a problem, unless radial head dislocation should occur. [1] [2] Most examples of radioulnar synostosis are isolated (non-syndromic).[ipfs.io]
  • *pulsatile pain *pulsatory pain *throbbing pain (剥) 【剥離骨折】*avulsion fracture ( 裂離骨折) 【剥離性間質性肺炎】*desquamative interstitial pneumonia 【剥離性歯肉炎】*[[歯]]desquamative gingivitis 【剥離性皮膚炎】*exfoliative dermatitis (発) 【発育性骨空洞】*developmental bone cavity 【発育不全症】*hypogenesis[medo.jp]
Rigor
  • 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.[symptoma.com]
Hypertension
  • Thus, posterior ISP predisposes the patient for intracranial hypertension. ISP diagnosis relies on clinical findings and a thorough analysis excluding other potential causes of plagiocephaly.[symptoma.com]
  • ., agenesis of the corpus callosum, Chiari malformation type 1, or conditions of intracranial hypertension) [ 18 ].[musculoskeletalkey.com]
  • It never improves spontaneously and confers the risk of intracranial hypertension, although this happens in 10% of cases when only a single suture is involved. 25 In contrast, PPP is often subtle and goes unnoticed or is absent at birth.[neupsykey.com]
  • 【高血圧】*hypertension 【高血圧眼底】*fundus hypertonicus[L] 【高血圧性心疾患】*hypertensive heart disease (略 HHD) 【高血圧性脳症】*hypertensive encephalopathy 【高血圧性網膜症】*hypertensive retinopathy 【高血圧発作】*hypertensive episode 【高血糖症】*hyperglycemia 過血糖症 【高コレステロール血症】*cholesterolemia[medo.jp]
Malocclusion
  • 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]
  • 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]
Fissured Tongue
  • tongue *lingua dissecta[L] ( 溝状舌) (脚) 【脚痛】*skelalgia (吸) 【吸引性肺炎】【吸入性肺炎】*aspiration pneumonia ( 嚥下性肺炎) (嗅) 【嗅覚過敏】*olfactory hyperesthesia *hyperosmia 【嗅覚消失症】*anosphrasia *anosmia 無嗅覚症 【嗅覚鈍麻】*olfactory hypesthesia (丘) 【丘疹】*papule 【丘疹症】*papulosis 【丘疹性舌炎[medo.jp]
Strabismus
  • In 50-60% of cases, strabismus is found as a consequence of anatomical changes in the orbital roof.[symptoma.com]
  • 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]
  • […] asymmetry / facial hemiatrophy / facial hemihypertrophy - Frontal bossing / prominent forehead - Plagiocephaly Frequent - Abnormal eye movements / oculomotor disorder - Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim - Strabismus[csbg.cnb.csic.es]
  • Further, the observed facial features were not suggestive of Crouzon dis- ease; in particular, none of the affected fam- ily members showed the characteristic ex- ophthalmus and external strabismus, nor was hypoplastic maxilla and relative man- dibular[docslide.us]
  • 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]
Torticollis
  • 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]
  • 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]
  • 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]
  • 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]
  • […] 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]
Hydrops Fetalis
  • Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care[books.google.com]
Frontal Bossing
  • Anterior ISP-associated deformities include a flattening of the frontal bone and of the ipsilateral orbital rim in combination with a contralateral frontal bossing.[symptoma.com]
  • However, in this situation, the vertex view reveals a trapezium-shaped head: there is a unilateral occipitoparietal flattening associated with contralateral frontal bossing.[neupsykey.com]
  • bossing / prominent forehead - Plagiocephaly Frequent - Abnormal eye movements / oculomotor disorder - Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim - Strabismus / squint Occasional - Autosomal dominant inheritance[csbg.cnb.csic.es]
Facial Hemihypertrophy
  • hemihypertrophy - Frontal bossing / prominent forehead - Plagiocephaly Frequent - Abnormal eye movements / oculomotor disorder - Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim - Strabismus / squint Occasional - Autosomal[csbg.cnb.csic.es]
Nystagmus
  • 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]
  • Other ophthalmic manifestations may include globe subluxation, ametropia, amblyopia and nystagmus [10]. Congenital glaucoma secondary to closed angles and FGFR2-related anterior segment dysgenesis has been reported [11].[eyewiki.aao.org]
  • *nystagmus of retraction (太) 【太鼓バチ状指】【太鼓バチ指】*clubbed finger バチ状指、バチ指 (代) 【代謝疾患】*metabolic disease (体) 【体静脈狭窄】*systemic vein stenosis (多) 【多飲多食症】*polydipsia 【多汗症】*hyperhidrosis *polyhidrosis *hidrosis *sudoresis 発汗過多症 【多顎症】*polygnathia 【多形滲出性紅斑】*erythema[medo.jp]
Speech Disorders
  • Topics include Facial nerve rehabilitation; Septorhinoplasty; Vascular lesions; Craniofacial anomalies; Free tissue transfer; Craniomaxillofacial trauma; Cleft lip and palate; Surgical speech disorders; Otoplasty; Microtia; Soft tissu trauma and scar[books.google.com]

Workup

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].

Treatment

  • 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]
  • Apply the latest treatment options in pediatric care with new chapters on pediatric sleep disorders, pediatric infectious disease, and evaluation and management of the infant airway.[books.google.com]
  • Neurological medications and neurosurgical treatments can produce neuro-ophthalmological dysfunction that can be difficult to distinguish from disease progression.[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]

Prognosis

  • 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]

Etiology

  • This suggests a yet-to-be-identified single-gene, autosomal dominant genetic etiology.[nature.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]
  • An etiologic and no- sologic overview of craniosynostosis syn- dromes. Birth Defects XI (2). 137-1 89. Eastman, J. R., V. Escobar & D. Bixler (1978). Linkage analysis in dominant acrocephalosyn- dactyly. J. Med. Genet. IS, 292-293. Eber, S. W., H.[docslide.us]
  • Most cases occur randomly for no apparent reason (sporadically) although an infant’s position in utero, large size and presence of twins have all been implicated as etiological factors.[rarediseases.org]

Epidemiology

  • […] 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]
  • An epidemiological study of nonsyndromal craniosynostoses. J Craniofac Surg 2011; 22 :47–49. 34. Mulliken JB, Gripp KW, Stolle CA, Steinberger D, Müller U.[nature.com]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]
  • Alternating your infant's sleep position by turning the head to the opposite side, and not putting infants on their backs when they are awake, may also help prevent and treat positional plagiocephaly.[stanfordchildrens.org]

References

Article

  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.

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Last updated: 2019-07-11 20:04