DOCSLIB.ORG

Congenital Craniofacial Deformities: Spectrum of Multidetector Computed Tomographic Findings

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Congenital Craniofacial Deformities: Spectrum of Multidetector Computed Tomographic Findings Congenital Craniofacial Deformities: Spectrum of Multidetector Computed Tomographic Findings Ahmed M Abougabal MD, Radiology, Children Hospital of Eastern Ontario & Faculty of Medicine, Alexandria University, Alexandria, Egypt, Mohamed H Zahran MD,PhD, Ali A Abdelkarim MD,PhD, Alaa Abdelhamid MD,PhD, Faculty of Medicine, Alexandria University, Egypt and Michel E Azouz MD,FRCPC, University of Ottawa, Ottawa, Ontario, Canada. Case (4): Plagiocephaly Case (5): Plagiocephaly Case (6): Apert syndrome Introduction: Case (7): Crouzon syndrome Imaging of craniofacial deformities is considered as one of the challenges for the radiologists. As reported in (1), Gorlin classified them into craniosynostosis (either syndromic as Apert and Crouzon syndrome or non syndromic), craniofacial clefts, and anomalies of the pharyngeal arches as Treacher Collins syndrome and hemifacial microsomia. Cross sectional imaging modalities including computed tomography (CT) and magnetic resonance (MR) are frequently used in the evaluation of these deformities. Because of its superior visualization of bones, CT is the gold standard imaging modality in preoperative as well as in post-operative evaluation of these deformities. The advent of multidetector CT scanner with its excellent multiplanar and three dimensional reconstruction capability has opened a new era in imaging of these lesions. A B C DE G ABC Purpose: To present the multidetector CT imaging findings of the different types of congenital craniofacial deformities. Figure (6): Apert syndrome: A 10-day-old child presenting with craniofacial deformity. 3D reconstructed volume rendered CT images (A&B) show evidence of oxycephalic configuration Figure(4): A 6 –month- old male presenting with plagiocephalic oblique configuration of the skull . (A&B) ABof the skull due to bilateral coronal craniosynostosis sparing the most medial portions of the sutures. The sagittal and metopic sutures are widened forming a bony gap in the skull. This volume rendered reconstructed CT images and (C) axial bone window image showing unilateral left is associated with marked hypoplasia of the mid face. Axial bone window CT scan (C) shows evidence of shallow orbital cavities associated with proptosis, widened lateral orbital A B C coronal bony synostosis. The left ear is seen anterior in location to the right ear which is an important Methods and Materials: Twenty children presenting clinically with different types of congenital craniofacial deformities Figure (5): A 1 -year-old female presenting with plagiocephaly. angles and frontalizaton of the greater wings of sphenoid bones bilaterally. Axial T2W MRI (D) shows traction ventriculomegaly of the lateral ventricles. Thinning of the corpus callosum Figure (7): Crouzon syndrome: A 6-month- old boy presenting with craniofacial deformity and proptosis . 3D sign in differentiating it from positional plagiocephaly. were studied with axial CT ( one mm section thickness) . All cases were examined by multidetector CT scanners. Three MIP and volume rendered CT (A&B) reconstructed images is seen in the T1W sagittal image (E). reconstructed CT images (A&B) showed evidence of bilateral coronal synostosis and hypoplastic mid face . The show synostosis of the lambdoid and coronal sutures on the left dimensional volume rendered and maximum intensity projection images as well as multiplanar sagittal and coronal Plain X-ray of foot and hand (G) shows evidence soft tissue syndactyly, which is pathognomonic for Apert syndrome. sagittal and lambdoid sutures are patent. Axial CT bone window (C) showed shallow orbital cavities with reconstructed images were obtained. Four of these cases were examined by magnetic resonance imaging (MRI) for side. proptosis optimal assessment of associated intracranial anomalies. Results: Based on the CT and clinical findings we classified the patients into the following groups: Case (11): Holoprosencephaly Case (8): Frontonasal dysplasia: Case (9): Cleft maxilla Case (10): Nasal cleft Case (12): Hemifacial microsomia 1) Eleven patients with craniosynostosis, six of whom were diagnosed to be non- syndromic including two cases of scaphocephaly, one case of trigonocephaly and three cases of plagiocephaly. The other five patients were proved to be syndromic, four were diagnosed as Apert syndrome and one was diagnosed as Crouzon syndrome. 2) Four cases of facial clefts, one was diagnosed as frontonasal dysplasia showing a sizable midline facial cleft associated with agenesis of corpus callosum and interhemispheric lipoma as confirmed by MRI. Another case was associated with hypotelorism and was diagnosed as semilobar holoprosencephaly by MRI. The third patient had a midline nasal cleft, and the fourth had a midline premaxillary cleft. 3) Five patients with pharyngeal arch anomalies included a case of hemifacial microsomia, a case of Treacher Collins syndrome, two cases of mandibular hypoplasia and one patient with microtia. AB C CD A B C A B C AB AB Figure (11): A 1-month-old boy showing complete cleft lip and palate with Figure(12): A 3 –year- old male presenting with left hemifacial microsomia. 3D volume rendered reconstructed Figure(8): Frontonasal dysplasia: A 5-year- old boy presenting with congenital craniofacial Figure (10): A 4 –year- old- male presenting with a congenital midline nasal cleft. 3D volume rendered hypotelorism . Axial MR T1W images (A&B) showed evidence of semilobar Figure (9): A 10 –year- old boy presenting with complete CT images (A&B) showed facial asymmetry with hypoplastic left ramus and left side of body of mandible and deformity, cleft lip and palate and hypertelorism . Volume rendered 3D reconstructed image (A) reconstructed CT image (A) & axial CT scan (soft tissue and bone windows) showed midline cleft in the holoprosencephaly manifested by single horseshoe ventricle with rudimentary cleft lip and palate: 3D volume rendered CT reconstructed ipsilateral deviation of the jaw. Coronal CT scan (soft tissue window) (C) showed atrophic left masseter, showed a sizable midline frontal bony defect as well as a defect in the left lateral nasal wall, left ethmoid bone with associated hypertelorism. temporal and dorsal horns. The thalami are seen fused in the midline with non image (A) & coronal bone window CT scan (B) showed a temporalis, medial pterygoid muscles and parotid gland compared to the right side. Coronal CT scan (bone Case (2):Sagittal and lambdoid lamina papyracea, inferomedial aspect of the left orbit , left maxilla involving its alveolar margin visualization of the septum pellucidum, interhemispheric fissure nor the midline defect seen involving the alveolar margin of the window) (D) showed associated atresia of the left external auditory canal. Case (1): Scaphocephaly and anterior aspect of the hard palate. Sagittal T1 MR image (B) and T2 axial fat suppression (C) anterior falx cerebri. There is also evidence of pachygyric pattern of the synostosis premaxilla with dehiscence of the medial wall of the right showing evidence of agenesis of the corpus callosum with parallel bodies of lateral ventricles. brain.3D volume rendered reconstructed CT image (C) showed deficient maxillary antrum which shows partial opacification due to Associated lipoma of the anterior interhemispheric fissure is seen showing T1 hyperintense signal premaxilla with associated hypotelorism. retained secretions and mucosal thickening. with suppression of its signal in the fat suppression sequence confirming its fatty nature. Case (13): Treacher Collins syndrome Case (14): Mandibular hypoplasia Case (15) : Mandibular hypoplasia Case (16): Microtia Case (17): Hemifacial hypertrophy ABC A B Figure (1): (A) sagittal CT showing dolicocephalic (scaphocephalic) Figure (2): A 5 -year- old male presenting with configuration of the skull with elongated AP diameter. (B) volume rendered scaphocephaly . 3D volume rendered reconstructed 3D reconstructed CT image & (C) coronal reconstructed CT image showing CT images (A&B) showing bony synostosis of the bony synostosis of the sagittal suture with patent coronal and lambdoid sagittal and lambdoid sutures. The coronal sutures sutures. are patent. A B C B D A C A ABCD Case (3): Trigonocephaly B A C Figure(13): A 3 -year- old female with Treacher Collins syndrome: (A,B,C) 3D volume rendered CT Figure (14): A 3 –month- old girl presenting with mandibular hypoplasia. MIP and volume B Figure (16): A 1 –month-old male presenting with microtia: Coronal soft tissue window (A) showing absent right images showing deficient zygomatic arches, hypoplastic maxillae and obtuse angle of the mandibles. rendered reconstructed CT images (A&B) showed hypoplasia of the right ramus of mandible with Figure (15): A two -year- old boy presenting with auricle. Axial high resolution bone window (B) showing bony atresia of the external auditory canal with hypoplastic Figure (17): A 5-year- old girl presenting with facial asymmetry since birth. (A&B) (D) Axial CT scan (bone window) showing that the lateral orbital walls are entirely formed by the absence of the mandible condyle and right temporomandibular joint. Axial CT scan (C) showed congenital hypoplasia of the mandible . Three middle ear cavity showing malaligned dysplastic ossicles which are seen attached to the lateral wall of the middle 3D volume rendered reconstructed CT images showed prominence of the soft greater wing of the sphenoid bones with absent zygoma bilaterally. atresia of the external auditory canal on the ipsilateral side. dimensional volume rendered reconstructed image cavity.
Load more

Recommended publications
  • Second Family with the Bostontype Craniosynostosis Syndrome: Novel Mutation and Expansion of the Clinical Spectrum
    CLINICAL REPORT Second Family With the Boston-Type Craniosynostosis Syndrome: Novel Mutation and Expansion of the Clinical Spectrum Alexander Janssen,1 Mohammad J. Hosen,2 Philippe Jeannin,3 Paul J. Coucke,2 Anne De Paepe,2 and Olivier M. Vanakker2* 1Department of Neurosurgery, Ghent University Hospital, Ghent, Belgium 2Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium 3Department of Pediatrics, Jan Palfijn Hospital, Ghent, Belgium Manuscript Received: 11 January 2013; Manuscript Accepted: 3 May 2013 Craniosynostosis, caused by early fusion of one or more cranial sutures, can affect the coronal or lambdoid sutures, or include How to Cite this Article: premature fusion of the sagittal (scaphocephaly) or metopic Janssen A, Hosen MJ, Jeannin P, Coucke suture (trigonocephaly). Often occurring as isolated finding, PJ, De Paepe A, Vanakker OM. 2013. their co-existence in a craniosynostosis syndrome is infrequent. Second family with the Boston-type We describe a four-generation family with variable expression of craniosynostosis syndrome: Novel mutation a craniosynostosis phenotype with scaphocephaly and a partic- and expansion of the clinical spectrum. ularly severe trigonocephaly. Molecular analysis revealed a mis- sense mutation in the MSX2—associated with the Boston-type Am J Med Genet Part A 161A:2352–2357. craniosynostosis syndrome—affecting the same amino-acid res- idue as in the original Boston family. Besides unique features such as the cranial sutures involved, minor limb abnormalities isolated sagittal synostosis, accounting for more than half of all and incomplete penetrance, our patients share with the original reported cases. Premature fusion of the sagittal suture results in family autosomal dominant inheritance and the presence of decreased width and inverse elongation of the anteroposterior axis multiple endocranial erosions on CT imaging.
    [Show full text]
  • Dysmorphology and Dysfunction in the Brain and Calvarial Vault of Nonsyndromic Craniosynostosis
    Yale University EliScholar – A Digital Platform for Scholarly Publishing at Yale Yale Medicine Thesis Digital Library School of Medicine January 2013 Dysmorphology And Dysfunction In The rB ain And Calvarial Vault Of Nonsyndromic Craniosynostosis Joel Stanley Beckett Yale School of Medicine, [email protected] Follow this and additional works at: http://elischolar.library.yale.edu/ymtdl Recommended Citation Beckett, Joel Stanley, "Dysmorphology And Dysfunction In The rB ain And Calvarial Vault Of Nonsyndromic Craniosynostosis" (2013). Yale Medicine Thesis Digital Library. 1781. http://elischolar.library.yale.edu/ymtdl/1781 This Open Access Thesis is brought to you for free and open access by the School of Medicine at EliScholar – A Digital Platform for Scholarly Publishing at Yale. It has been accepted for inclusion in Yale Medicine Thesis Digital Library by an authorized administrator of EliScholar – A Digital Platform for Scholarly Publishing at Yale. For more information, please contact [email protected]. Dysmorphology and Dysfunction in the Brain and Calvarial Vault of Nonsyndromic Craniosynostosis Yale University School of Medicine in Partial Fulfillment of the Requirements for the Degree of Doctor of Medicine by Joel Stanley Beckett 2013 Abstract Craniosynostosis is a premature pathologic fusion of one or more sutures in the calvarial vault. The six calvarial sutures are growth sites between adjacent intramembranous bones, which allow for flexibility during passage through the birth canal and accommodation for the growing brain. (1) Premature fusion results in obvious cranial morphologic abnormality and can be associated with elevated intracranial pressure, visual dysfunction, mental retardation and various forms of subtler learning disability. (2) A category of disease called isolated nonsyndromic craniosynostosis (NSC) represents nearly 85% of cases.
    [Show full text]
  • Endoscopy-Assisted Early Correction of Single-Suture Metopic Craniosynostosis: a 19-Year Experience
    CLINICAL ARTICLE J Neurosurg Pediatr 23:61–74, 2019 Endoscopy-assisted early correction of single-suture metopic craniosynostosis: a 19-year experience David F. Jimenez, MD,1 Michael J. McGinity, MD,1 and Constance M. Barone, MD2 1Department of Neurosurgery, University of Texas Health San Antonio; and 2Cosmetic Surgery Center, San Antonio, Texas OBJECTIVE The objective of this study was to present the authors’ 19-year experience treating metopic craniosynos- tosis by using an endoscopy-assisted technique and postoperative cranial orthotic therapy. The authors also aimed to provide a comprehensive, comparative statistical analysis of minimally invasive surgery (MIS) versus open surgery in reports previously published in the literature (through 2014) regarding only patients with metopic synostosis. METHODS A total of 141 patients with single-suture metopic nonsyndromic craniosynostosis sutures were treated between 1998 and 2017 by endoscopically resecting the synostosed bone followed by postoperative custom cranial orthosis use. All data used in the case series were collected prospectively and stored in a secure database. A compre- hensive literature review was performed that included all previous case series reporting common surgical performance measures. A statistical comparison of traditional open methods versus MIS techniques was performed with regard to age, length of hospital stay (LOS), surgical time, estimated blood loss (EBL), and transfusion rate. RESULTS The mean age at the time of surgery in the current series was 4.1 months. The mean EBL was 33 ml (range 5–250 ml). One patient underwent an intraoperative blood transfusion and 5 underwent postoperative blood transfu- sion for a total transfusion rate of 4.3%.
    [Show full text]
  • West Texas Craniofacial Center of Excellence
    TEAM MEMBERS Tammy Camp, M.D. PAID PERMIT #68 LUBBOCK, TX LUBBOCK, U.S. POSTAGE POSTAGE U.S. NONPROFIT ORG Pediatrician, Texas Tech Physicians Desiree Pendergrass, M.D. Pediatrician Dr. Camp Dr. Camp and Dr. Pendergrass will screen infants and children for cardiac, renal, feeding or airway problems often associated with syndromic craniofacial deformities. Alan Eisenbaum, M.D. Pediatric ophthalmologist, Dr. Pendergrass Texas Tech Physicians Curt Cockings, M.D. Pediatric ophthalmologist Dr. Eisenbaum and Dr. Cockings will screen infants and children with abnormal head shapes for any evidence of optic disc swelling of papilledema Dr. Eisenbaum suggestive of elevated intracranial pressure. They will also screen for any visual loss secondary to optic neuropathy, amblyopia or exposure keratopathy as a results of small orbital volume in syndromic synostoses. APPOINTMENTS Dr. Demke sees patients at the Texas Tech Physicians Medical Pavilion in the Surgery Clinic. His clinic days are Tuesday and Thursday, 8 a.m. – 5 p.m. Please call (806)743-2373 for a referral. SURGERY Dr. Nagy sees patients at Covenant Women’s and Children’s Hospital on Tuesdays and Wednesdays 9am – 5pm weekly. For this clinic location, Lubbock, 79430 Texas please call (806) 743-7700 for a referral. He also sees patients at Texas Department Surgery of Tech Physicians Medical Pavilion, 3rd floor, on Mondays from 9am – 5pm 8312 – MS Street 4th 3601 weekly. For this clinic location, please call (806) 743-7335 for a referral. If a patient needs to see both Dr. Demke and Dr. Nagy, arrangements SURGERY will be made to see the patient on the same day.
    [Show full text]
  • Blueprint Genetics Craniosynostosis Panel
    Craniosynostosis Panel Test code: MA2901 Is a 38 gene panel that includes assessment of non-coding variants. Is ideal for patients with craniosynostosis. About Craniosynostosis Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape. It may result from a primary defect of ossification (primary craniosynostosis) or, more commonly, from a failure of brain growth (secondary craniosynostosis). Premature closure of the sutures (fibrous joints) causes the pressure inside of the head to increase and the skull or facial bones to change from a normal, symmetrical appearance resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome with a variety of inheritance patterns and reccurrence risks. Craniosynostosis occurs in 1/2,200 live births. Availability 4 weeks Gene Set Description Genes in the Craniosynostosis Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD ALPL Odontohypophosphatasia, Hypophosphatasia perinatal lethal, AD/AR 78 291 infantile, juvenile and adult forms ALX3 Frontonasal dysplasia type 1 AR 8 8 ALX4 Frontonasal dysplasia type 2, Parietal foramina AD/AR 15 24 BMP4 Microphthalmia, syndromic, Orofacial cleft AD 8 39 CDC45 Meier-Gorlin syndrome 7 AR 10 19 EDNRB Hirschsprung disease, ABCD syndrome, Waardenburg syndrome AD/AR 12 66 EFNB1 Craniofrontonasal dysplasia XL 28 116 ERF Craniosynostosis 4 AD 17 16 ESCO2 SC phocomelia syndrome, Roberts syndrome
    [Show full text]
  • Prenatal Ultrasonography of Craniofacial Abnormalities
    Prenatal ultrasonography of craniofacial abnormalities Annisa Shui Lam Mak, Kwok Yin Leung Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Hong Kong SAR, China REVIEW ARTICLE https://doi.org/10.14366/usg.18031 pISSN: 2288-5919 • eISSN: 2288-5943 Ultrasonography 2019;38:13-24 Craniofacial abnormalities are common. It is important to examine the fetal face and skull during prenatal ultrasound examinations because abnormalities of these structures may indicate the presence of other, more subtle anomalies, syndromes, chromosomal abnormalities, or even rarer conditions, such as infections or metabolic disorders. The prenatal diagnosis of craniofacial abnormalities remains difficult, especially in the first trimester. A systematic approach to the fetal Received: May 29, 2018 skull and face can increase the detection rate. When an abnormality is found, it is important Revised: June 30, 2018 to perform a detailed scan to determine its severity and search for additional abnormalities. Accepted: July 3, 2018 Correspondence to: The use of 3-/4-dimensional ultrasound may be useful in the assessment of cleft palate and Kwok Yin Leung, MBBS, MD, FRCOG, craniosynostosis. Fetal magnetic resonance imaging can facilitate the evaluation of the palate, Cert HKCOG (MFM), Department of micrognathia, cranial sutures, brain, and other fetal structures. Invasive prenatal diagnostic Obstetrics and Gynaecology, Queen Elizabeth Hospital, Gascoigne Road, techniques are indicated to exclude chromosomal abnormalities. Molecular analysis for some Kowloon, Hong Kong SAR, China syndromes is feasible if the family history is suggestive. Tel. +852-3506 6398 Fax. +852-2384 5834 E-mail: [email protected] Keywords: Craniofacial; Prenatal; Ultrasound; Three-dimensional ultrasonography; Fetal structural abnormalities This is an Open Access article distributed under the Introduction terms of the Creative Commons Attribution Non- Commercial License (http://creativecommons.org/ licenses/by-nc/3.0/) which permits unrestricted non- Craniofacial abnormalities are common.
    [Show full text]
  • MR Imaging of Fetal Head and Neck Anomalies
    Neuroimag Clin N Am 14 (2004) 273–291 MR imaging of fetal head and neck anomalies Caroline D. Robson, MB, ChBa,b,*, Carol E. Barnewolt, MDa,c aDepartment of Radiology, Children’s Hospital Boston, 300 Longwood Avenue, Harvard Medical School, Boston, MA 02115, USA bMagnetic Resonance Imaging, Advanced Fetal Care Center, Children’s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA cFetal Imaging, Advanced Fetal Care Center, Children’s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA Fetal dysmorphism can occur as a result of var- primarily used for fetal MR imaging. When the fetal ious processes that include malformation (anoma- face is imaged, the sagittal view permits assessment lous formation of tissue), deformation (unusual of the frontal and nasal bones, hard palate, tongue, forces on normal tissue), disruption (breakdown of and mandible. Abnormalities include abnormal promi- normal tissue), and dysplasia (abnormal organiza- nence of the frontal bone (frontal bossing) and lack of tion of tissue). the usual frontal prominence. Abnormal nasal mor- An approach to fetal diagnosis and counseling of phology includes variations in the size and shape of the parents incorporates a detailed assessment of fam- the nose. Macroglossia and micrognathia are also best ily history, maternal health, and serum screening, re- diagnosed on sagittal images. sults of amniotic fluid analysis for karyotype and Coronal images are useful for evaluating the in- other parameters, and thorough imaging of the fetus tegrity of the fetal lips and palate and provide as- with sonography and sometimes fetal MR imaging. sessment of the eyes, nose, and ears.
    [Show full text]
  • Frontonasal Dysplasia
    Frontonasal Dysplasia Frontonasal dysplasia is a developmental field defect of cran- f. Ocular anomalies iofacial region characterized by hypertelorism and varying i. Hypertelorism degrees of median nasal clefting. In 1967, DeMeyer first ii. Epicanthal folds described the malformation complex ‘median cleft face syn- iii. Narrowing of the palpebral fissures drome’ to emphasize the key midface defects. Since then several iv. Accessory nasal eyelid tissue with secondary terms have been introduced: frontonasal dysplasia, fron- displacement of inferior puncti colobomas tonasal syndrome, frontonasal dysostosis, and craniofrontonasal v. Epibulbar dermoids dysplasia. vi. Upper eyelid colobomas vii. Microphthalmia GENETICS/BASIC DEFECTS viii. Vitreoretinal degeneration with retinal detachment ix. Congenital cataracts 1. Inheritance g. Facial anomalies a. Sporadic in most cases i. Widow’s peak configuration of the anterior hair- b. Rare autosomal dominant inheritance with variable line in the forehead expression ii. Median cleft of upper lip c. Rare autosomal recessive inheritance iii. Median cleft palate d. Rare X-linked dominant inheritance iv. Preauricular tag 2. Rare association with chromosome anomalies v. Absent tragus a. Partial trisomy 2q and partial monosomy 7q from a vi. Low-set ears balanced maternal t(2;7)(q31;q36) h. Other anomalies b. 22q11 microdeletion i. Conductive deafness c. Reciprocal translocation t(15;22)(q22;q13) ii. Hypoplastic frontal sinuses d. Complex translocation involving chromosomes 3, 7, iii. Cardiac anomalies, especially teratology of and 11 Fallot 3. Rare variants of frontonasal dysplasia/malformation with iv. Limb anomalies variable inheritance patterns a) Clinodactyly 4. Embryologically classified as a developmental field b) Polydactyly defect c) Syndactyly 5. Extreme variable phenotypic expression d) Tibial hypoplasia v.
    [Show full text]
  • Blueprint Genetics Comprehensive Growth Disorders / Skeletal
    Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Test code: MA4301 Is a 374 gene panel that includes assessment of non-coding variants. This panel covers the majority of the genes listed in the Nosology 2015 (PMID: 26394607) and all genes in our Malformation category that cause growth retardation, short stature or skeletal dysplasia and is therefore a powerful diagnostic tool. It is ideal for patients suspected to have a syndromic or an isolated growth disorder or a skeletal dysplasia. About Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders This panel covers a broad spectrum of diseases associated with growth retardation, short stature or skeletal dysplasia. Many of these conditions have overlapping features which can make clinical diagnosis a challenge. Genetic diagnostics is therefore the most efficient way to subtype the diseases and enable individualized treatment and management decisions. Moreover, detection of causative mutations establishes the mode of inheritance in the family which is essential for informed genetic counseling. For additional information regarding the conditions tested on this panel, please refer to the National Organization for Rare Disorders and / or GeneReviews. Availability 4 weeks Gene Set Description Genes in the Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD ACAN# Spondyloepimetaphyseal dysplasia, aggrecan type, AD/AR 20 56 Spondyloepiphyseal dysplasia, Kimberley
    [Show full text]
  • Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders
    Comprehensive Skeletal Dysplasias and Disorders Panel Test code: MA3301 Is a 251 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of disorders involving the skeletal system. About Comprehensive Skeletal Dysplasias and Disorders This panel covers a broad spectrum of skeletal disorders including common and rare skeletal dysplasias (eg. achondroplasia, COL2A1 related dysplasias, diastrophic dysplasia, various types of spondylo-metaphyseal dysplasias), various ciliopathies with skeletal involvement (eg. short rib-polydactylies, asphyxiating thoracic dysplasia dysplasias and Ellis-van Creveld syndrome), various subtypes of osteogenesis imperfecta, campomelic dysplasia, slender bone dysplasias, dysplasias with multiple joint dislocations, chondrodysplasia punctata group of disorders, neonatal osteosclerotic dysplasias, osteopetrosis and related disorders, abnormal mineralization group of disorders (eg hypopohosphatasia), osteolysis group of disorders, disorders with disorganized development of skeletal components, overgrowth syndromes with skeletal involvement, craniosynostosis syndromes, dysostoses with predominant craniofacial involvement, dysostoses with predominant vertebral involvement, patellar dysostoses, brachydactylies, some disorders with limb hypoplasia-reduction defects, ectrodactyly with and without other manifestations, polydactyly-syndactyly-triphalangism group of disorders, and disorders with defects in joint formation and synostoses. Availability 4 weeks Gene Set Description
    [Show full text]
  • Detailed Characterization Of, and Clinical Correlations In, 10 Patients
    August 2008 ⅐ Vol. 10 ⅐ No. 8 article Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p Xueya Hauge, PhD1, Gordana Raca, PhD2, Sara Cooper, MS2, Kristin May, PhD3, Rhonda Spiro, MD4, Margaret Adam, MD2, and Christa Lese Martin, PhD2 Purpose: Deletions of distal 9p are associated with trigonocephaly, mental retardation, dysmorphic facial features, cardiac anomalies, and abnormal genitalia. Previous studies identified a proposed critical region for the consensus phenotype in band 9p23, between 11.8 Mb and 16 Mb from the 9p telomere. Here we report 10 new patients with 9p deletions; 9 patients have clinical features consistent with 9pϪ syndrome, but possess terminal deletions smaller than most reported cases, whereas one individual lacks the 9pϪ phenotype and shows a 140-kb interstitial telomeric deletion inherited from his mother. Methods: We combined fluorescence in situ hybridization and microarray analyses to delineate the size of each deletion. Results: The deletion sizes vary from 800 kb to 12.4 Mb in our patients with clinically relevant phenotypes. Clinical evaluation and comparison showed little difference in physical features with regard to the deletion sizes. Severe speech and language impairment were observed in all patients with clinically relevant phenotypes. Conclusion: The smallest deleted region common to our patients who demonstrate a phenotype consistent with 9pϪ is Ͻ2 Mb of 9pter, which contains six known genes. These genes may contribute to some of the cardinal features of 9p deletion syndrome. Genet Med 2008:10(8): 599–611. Key Words: 9p deletion, FISH, genotype-phenotype correlation, aCGH The 9p deletion syndrome is characterized by trigonoceph- points in 24 patients with visible 9p deletions and breakpoints aly, moderate to severe mental retardation, low-set, mal- at 9p22 or 9p23.
    [Show full text]
  • Craniosynostosis Precision Panel Overview Indications Clinical Utility
    Craniosynostosis Precision Panel Overview Craniosynostosis is defined as the premature fusion of one or more cranial sutures, often resulting in abnormal head shape. It is a developmental craniofacial anomaly resulting from a primary defect of ossification (primary craniosynostosis) or, more commonly, from a failure of brain growth (secondary craniosynostosis). As well, craniosynostosis can be simple when only one suture fuses prematurely or complex/compound when there is a premature fusion of multiple sutures. Complex craniosynostosis are usually associated with other body deformities. The main morbidity risk is the elevated intracranial pressure and subsequent brain damage. When left untreated, craniosynostosis can cause serious complications such as developmental delay, facial abnormality, sensory, respiratory and neurological dysfunction, eye anomalies and psychosocial disturbances. In approximately 85% of the cases, this disease is isolated and nonsyndromic. Syndromic craniosynostosis usually present with multiorgan complications. The Igenomix Craniosynostosis Precision Panel can be used to make a directed and accurate diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved. Indications The Igenomix Craniosynostosis Precision Panel is indicated for those patients with a clinical diagnosis or suspicion with or without the following manifestations: ‐ Microcephaly ‐ Scaphocephaly (elongated head) ‐ Anterior plagiocephaly ‐ Brachycephaly ‐ Torticollis ‐ Frontal bossing Clinical Utility The clinical utility of this panel is: - The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient. - Early initiation of treatment in the form surgical procedures to relieve fused sutures, midface advancement, limited phase of orthodontic treatment and combined 1 orthodontics/orthognathic surgery treatment.
    [Show full text]