DOCSLIB.ORG

The Fetal Skeletal System

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
The Fetal Skeletal System The Fetal Ultrasound Assessment of Fetal Skeletal System Skeletal System Extremities Spine Calvarium Carol B. Benson, MD No Disclosures Extremities Assess To Exclude Calderon Femur length Size Skeletal dysplasia Presence Absent limb Amniotic band syndrome Bones of forearms Radial hypoplasia Hand position Clenched fists Foot position Clubfoot Rockerbottom foot Michel arm 3 bones Caraballo nl hand Femur Length Foot Normal for gestational age = Mean ± 2 SD Femur length falls 2 - 4 SD below mean Most are growth restricted Without skeletal dysplasia Femur length falls > 4 SD below mean Usually a skeletal dysplasia Bones appear abnormal by US Steimle Femur length Long Bones are Too Short Skeletal dysplasia Dysotosis Malformation Deformation amniotic band syndrome restrictive uterine environment Lethal Skeletal Dysplasias Nonlethal Skeletal Dysplasias Neonate cannot survive Infants typically survive usually due to respiratory failure Ultrasound diagnosis typically Ultrasound diagnosis typically not made in 2nd trimester made in 2nd trimester sometimes made in 3rd trimester Thanatophoric dysplasia Heterozygous achondroplasia Osteogenesis imperfecta Type 2 Osteogenesis imperfecta Types 1&4 Achondrogenesis Asphyxiating thoracic dystrophy Congenital hypophosphatasia Short rib – polydactyly syndrome Skeletal Dysplasias Thanatophoric Dwarf Ultrasound assessment Most common lethal skeletal dysplasia Degree of shortening of long bones Severe rhizomelia typically > 4 SD below mean for GA (proximal shortening) Distribution of involved bones Bowed long bones extremities, spine, calvarium, ribs Narrowed thorax – short ribs Bony abnormalities Flattened vertebral bodies ↓ mineralization, fractures, bowing Cloverleaf skull Polydactyly Megalencephaly – temporal lobe with excess sulcation/fissures Thanatophoric dysplasia Kristian 19w thanatophoric Kristian 19w thanatophoric FEM Osteogenesis Imperfecta Osteogenesis Imperfecta Type 2 Type 2 Type 2 — Autosomal recessive Lethal Ultrasound findings — Type 2 Lopez OI Fractures Deformities Poor mineralization Soft skull Types 1, 3, & 4 — Autosomal dominant Nonlethal Osteogenesis Imperfecta Type 2 Osteogenesis Imperfecta Type 2 Lopez OI Astacio OI 3D Osteogenesis Imperfecta Osteogenesis Imperfecta Type 1 Type 1 & 4 Type 1 & 4 — Autosomal dominant Nonlethal Ultrasound findings — Type 1 & 4 McBride OI type 4 Lagging growth of long bones 3rd trimester Bowing of long bones Mild deformities Poor mineralization Soft skull Osteogenesis Imperfecta Type 4 Osteogenesis Imperfecta Type 4 Jones fem fx Al-Owfi OI type 4 OI 4 2.4 cm 2.0 cm 18 weeks Arthrogryposis Arthrogryposis Multiplex Congenita Multiple joint contractures Etiologies Ultrasound findings Limitation to movement Contractures Oligohydramnios Fetal growth restriction Multiple gestation Polyhydramnios Bicornuate uterus Hydrops Abnormal nerve function Abnormal musculature Defective connective tissue Arthrogryposis Eires arthrogryposis Beausoleil arthrogryposis Arthrogryposis from Larsen syndrome (rare genetic syndrome) McGuigan arthrogryposis Banerjee Larsen syn arthrogryposis Abnormal Hands & Forearms Radial Ray Anomalies Associated with Inherently abnormal Malformation Syndromes Dysplasia Cornelia de Lange Fanconi anemia Normal tissues effected by external Holt-Oram factors Radial aplasia-Thrombocytopenia Deformation Poland syndrome uterine constraints Nager acrofacial dysostosis amniotic band syndrome VACTERL Disruption (e.g., teratogen) Trisomies 13 & 18 Radial Ray Defect Abnormal Thumb Hypoplastic radius VACTERL Abnormal thumb VACTERL Martins hypopl Henebry VACTERL radius VACTERL abnl thumb Absent radius Limb Reduction Defects Terminal transverse deletions (e.g., absent hands) Landry absent radius tri 18 Isolated sporadic, unilateral amniotic band syndrome vascular accident Syndromes Orofacial (e.g., Poland) Amniotic bands Penney absent toes ABS Osgood absent hand Nager Acrofacial Dysostosis Characteristics Osgood absent Mandibulofacial dysostosis hand 3D bones Hypoplastic mandible External ear abnormalities ± Auditory canal atresia Upper extremity reduction defects Radial ray defects Polydactyly Supernumerary fingers or toes Skeletal dysplasias Alshamsi Nager’s Short-rib polydactyly Chondroectodermal dysplasia Asphyxiating thoracic dysplasia Trisomy 13 Meckel-Gruber syndrome Autosomal dominant polydactyly usually post-axial Polydactyly with Meckel-Gruber Polydactyly MacGowan polydactyly with Isabelle Meckel Gruber Polydactyly Hand Foot 13 weeks 17 weeks Polydactyly Ectrodactyly V-shaped defect (cleft) in middle of hands &/or feet with missing digits Torres ± Syndactyly Polydactyly 25 weeks Associated Genetic syndromes, e.g. Split-hand-foot malformation Silver-Russell 19 weeks Cornelia de Lange Dowd ectrodact hands & feet Ligibel cleft hand missing finger Appleton absent finger Cleft hand Clinodactyly Clinodactyly & short Overlapping Digits middle phalanx Deviation or deflection of finger(s) Subenko clinodactyly Curving of 5th finger towards 4th Trisomy 21 Overlapping digits Normal Trisomy 13 Trisomy 18 Clenched hands – Trisomy 18 Sin abnl hands Dixon clinodactyly Clubfoot Clubfoot Etiology Genetic Lashley clubfeet A variety of syndromes Chromosomal defects 13 weeks Environmental Severe oligohydramnios Uterine anomalies Ultrasound findings Bones of the foot lie in parallel to bones of lower leg 21 weeks Rockerbottom feet – Trisomy 18 Rockerbottom Foot Etiology Woodland Trisomy 18 rockerbottom feet Skeletal dysplasia Ultrasound findings Rounded bottom of foot Rockerbottom feet Amniotic Band Syndrome Early rupture of amnion Atlas BRB rockerbottom feet Fibrous bands entrap or adhere to fetus Limb amputations or deformities Encephaloceles Facial clefts Ventral wall defects Ectopia cordis Amniotic Band Syndrome Amniotic Band Syndrome Ultrasound Findings Fetal deformities Dailey ABS Skeletal anomalous hand Craniofacial Ventral wall Adherent bands DDx: Amniotic “sheets” Amniotic Band Syndrome Spinal Abnormalities Meningomyelocele Juris ABS missing hand Hemivertebra 13 weeks Scoliosis Diastomatomyelia Caudal regression / sacral agenesis Sacrococcygeal teratoma 21 weeks Meningomyelocele Guilmet Meningomyelocele Normal Meningomyelocele Meningocele Bardales tri 18 Meningomyelocele Spina bifida Protrusion of membranes & fluid No protrusion of nerve roots Often skin covered Ultrasound findings splaying of posterior elements cystic mass protruding 19 weeks Reif 20w Cabral 19w 3D Meningocele Meningocele Hemivertebrae Hemivertebrae Associated with a variety of syndromes Johnson hemivertebrae Ultrasound findings Kink in spine Mismatch of posterior ossification centers Hemivertebrae 1 5 Rossman hemivert Hazen Hemivert 10 13 Sacral agenesis Sacral Agenesis MacDougall Hypoplasia / absence sacral agen 2 or more sacral vertebrae In fetuses of diabetic mothers with poor glucose control Sacral agenesis Caudal Regression Benson sacral agenesis Sacral agenesis + Anomalies of pelvis and lower extremities In fetuses of diabetic mothers with poor glucose control Caudal regression Sacrococcygeal Teratoma Germ cell tumor arising Kelshan caudal regression in presacral area Ultrasound findings Mass arising from lower sacrum Extending posteriorly and inferiorly ± Hydrops ± Extension anteriorly into pelvis Sacrococcygeal Teratoma Sacral erosion Cranial Anomalies Craniosynostosis Bonica SCT Trigonocephaly (Trisomy 13) Cloverleaf skull (Thanatophoric dysplasia) Lemon sign (Chiari II malformation) Strawberry skull (Trisomy 18) Craniosynostosis Craniosynostosis Premature closure of one or more cranial sutures; Male:Female = 2:1 Complications: Abnormal head shape Harrigan craniosyn Abnormal faces Neurologic deficits e.g., hearing loss Prenatal diagnosis Typically not possible before 3rd trimester 26 weeks Trigonocephaly – Trisomy 13 Trigonocephaly Craniosynostosis with premature Britt tri 13 fusion of metopic suture trigonoceph (anterior midline, forehead) Associated with Trisomy 13 Semilobar 35 weeks Holoprosencephaly Cloverleaf skull – Thanatophoric dysplasia Cloverleaf Skull Craniosynostosis causing trilobed shape Cole thanat skull prominent forehead Associated with Thanatophoric dysplasia 37 weeks Lemon-Shaped Cranium Nogueria lemon sign Associated with Chiari II malformation Meningomyelocele Lemon Sign with Meningomyelocele Strawberry-Shaped Cranium Strawberry-Shaped Cranium Trisomy 18 – 15 weeks Associated with Trisomy 18 Schindler strawb sk.
Load more

Recommended publications
  • Frontosphenoidal Synostosis: a Rare Cause of Unilateral Anterior Plagiocephaly
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by RERO DOC Digital Library Childs Nerv Syst (2007) 23:1431–1438 DOI 10.1007/s00381-007-0469-4 ORIGINAL PAPER Frontosphenoidal synostosis: a rare cause of unilateral anterior plagiocephaly Sandrine de Ribaupierre & Alain Czorny & Brigitte Pittet & Bertrand Jacques & Benedict Rilliet Received: 30 March 2007 /Published online: 22 September 2007 # Springer-Verlag 2007 Abstract Conclusion Frontosphenoidal synostosis must be searched Introduction When a child walks in the clinic with a in the absence of a coronal synostosis in a child with unilateral frontal flattening, it is usually associated in our anterior unilateral plagiocephaly, and treated surgically. minds with unilateral coronal synostosis. While the latter might be the most common cause of anterior plagiocephaly, Keywords Craniosynostosis . Pediatric neurosurgery. it is not the only one. A patent coronal suture will force us Anterior plagiocephaly to consider other etiologies, such as deformational plagio- cephaly, or synostosis of another suture. To understand the mechanisms underlying this malformation, the development Introduction and growth of the skull base must be considered. Materials and methods There have been few reports in the Harmonious cranial growth is dependent on patent sutures, literature of isolated frontosphenoidal suture fusion, and and any craniosynostosis might lead to an asymmetrical we would like to report a series of five cases, as the shape of the skull. The anterior skull base is formed of recognition of this entity is important for its treatment. different bones, connected by sutures, fusing at different ages. The frontosphenoidal suture extends from the end of Presented at the Consensus Conference on Pediatric Neurosurgery, the frontoparietal suture, anteriorly and inferiorly in the Rome, 1–2 December 2006.
    [Show full text]
  • Poland Syndrome with Atypical Malformations Associated to a De Novo 1.5 Mb Xp22.31 Duplication
    Short Communication Poland Syndrome with Atypical Malformations Associated to a de novo 1.5 Mb Xp22.31 Duplication Carmela R. Massimino1 Pierluigi Smilari1 Filippo Greco1 Silvia Marino2 Davide Vecchio3 Andrea Bartuli3 Pasquale Parisi4 Sung Y. Cho5 Piero Pavone1,5 1 Department of Clinical and Experimental Medicine, Section of Pediatrics Address for correspondence Piero Pavone, MD, PhD, Department of and Child Neuropsychiatry, University of Catania, Catania, CT, Italy Pediatrics, AOU Policlinico-Vittorio Emanuele, University of Catania, 2 University-Hospital “Policlinico-Vittorio Emanuele,” University of Via S. Sofia 78, 95123 Catania, CT, Italy (e-mail: [email protected]). Catania, Catania, CT, Italy 3 Rare Disease and Medical Genetics, Academic Department of Pediatrics, Bambino Gesù Children’s Hospital, Rome, Italy 4 Child Neurology, Chair of Pediatrics, NESMOS Department, Faculty of Medicine & Psychology, Sapienza University, c/o Sant’ Andrea Hospital, Rome, Italy 5 Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea Neuropediatrics Abstract Poland’s syndrome (PS; OMIM 173800) is a rare congenital syndrome which consists of absence or hypoplasia of the pectoralis muscle. Other features can be variably associated, including rib defects. On the affected side other features (such as of breast and nipple anomalies, lack of subcutaneous tissue and skin annexes, hand anomalies, visceral, and vertebral malformation) have been variably documented. To date, association of PS with central nervous system malformation has been rarely reported remaining poorly understood and characterized. We report a left-sided PS patient Keywords carrying a de novo 1.5 Mb Xp22.31 duplication diagnosed in addiction to strabismus, ► Poland’ssyndrome optic nerves and chiasm hypoplasia, corpus callosum abnormalities, ectopic neurohy- ► hypoplasic optic pophysis, pyelic ectasia, and neurodevelopmental delay.
    [Show full text]
  • 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]
  • Osteodystrophy-Like Syndrome Localized to 2Q37
    Am. J. Hum. Genet. 56:400-407, 1995 Brachydactyly and Mental Retardation: An Albright Hereditary Osteodystrophy-like Syndrome Localized to 2q37 L. C. Wilson,"7 K. Leverton,3 M. E. M. Oude Luttikhuis,' C. A. Oley,4 J. Flint,5 J. Wolstenholme,4 D. P. Duckett,2 M. A. Barrow,2 J. V. Leonard,6 A. P. Read,3 and R. C. Trembath' 'Departments of Genetics and Medicine, University of Leicester, and 2Leicestershire Genetics Centre, Leicester Royal Infirmary, Leicester, 3Department of Medical Genetics, St Mary's Hospital, Manchester. 4Department of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne; 5MRC Molecular Haematology Unit, Institute of Molecular Medicine, Oxford; and 6Medical Unit and 7Mothercare Unit for Clinical Genetics and Fetal Medicine, Institute of Child Health, London Summary The physical feature brachymetaphalangia refers to shortening of either the metacarpals and phalanges of the We report five patients with a combination ofbrachymeta- hands or of the equivalent bones in the feet. The combina- phalangia and mental retardation, similar to that observed tion of brachymetaphalangia and mental retardation occurs in Albright hereditary osteodystrophy (AHO). Four pa- in Albright hereditary osteodystrophy (AHO) (Albright et tients had cytogenetically visible de novo deletions of chro- al. 1942), a dysmorphic syndrome that is also associated mosome 2q37. The fifth patient was cytogenetically nor- with cutaneous ossification (in si60% of cases [reviewed by mal and had normal bioactivity of the a subunit of Gs Fitch 1982]); round face; and short, stocky build. Affected (Gsa), the protein that is defective in AHO. In this patient, individuals with AHO may have either pseudohypopara- we have used a combination of highly polymorphic molec- thyroidism (PHP), with end organ resistance to parathyroid ular markers and FISH to demonstrate a microdeletion at hormone (PTH) and certain other cAMP-dependent hor- 2q37.
    [Show full text]
  • Orphanet Journal of Rare Diseases Biomed Central
    Orphanet Journal of Rare Diseases BioMed Central Review Open Access Brachydactyly Samia A Temtamy* and Mona S Aglan Address: Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre (NRC), El-Buhouth St., Dokki, 12311, Cairo, Egypt Email: Samia A Temtamy* - [email protected]; Mona S Aglan - [email protected] * Corresponding author Published: 13 June 2008 Received: 4 April 2008 Accepted: 13 June 2008 Orphanet Journal of Rare Diseases 2008, 3:15 doi:10.1186/1750-1172-3-15 This article is available from: http://www.ojrd.com/content/3/1/15 © 2008 Temtamy and Aglan; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. To date, many different forms of brachydactyly have been identified. Some forms also result in short stature. In isolated brachydactyly, subtle changes elsewhere may be present. Brachydactyly may also be accompanied by other hand malformations, such as syndactyly, polydactyly, reduction defects, or symphalangism. For the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has been identified.
    [Show full text]
  • A Narrative Review of Poland's Syndrome
    Review Article A narrative review of Poland’s syndrome: theories of its genesis, evolution and its diagnosis and treatment Eman Awadh Abduladheem Hashim1,2^, Bin Huey Quek1,3,4^, Suresh Chandran1,3,4,5^ 1Department of Neonatology, KK Women’s and Children’s Hospital, Singapore, Singapore; 2Department of Neonatology, Salmanya Medical Complex, Manama, Kingdom of Bahrain; 3Department of Neonatology, Duke-NUS Medical School, Singapore, Singapore; 4Department of Neonatology, NUS Yong Loo Lin School of Medicine, Singapore, Singapore; 5Department of Neonatology, NTU Lee Kong Chian School of Medicine, Singapore, Singapore Contributions: (I) Conception and design: EAA Hashim, S Chandran; (II) Administrative support: S Chandran, BH Quek; (III) Provision of study materials: EAA Hashim, S Chandran; (IV) Collection and assembly: All authors; (V) Data analysis and interpretation: BH Quek, S Chandran; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: A/Prof. Suresh Chandran. Senior Consultant, Department of Neonatology, KK Women’s and Children’s Hospital, Singapore 229899, Singapore. Email: [email protected]. Abstract: Poland’s syndrome (PS) is a rare musculoskeletal congenital anomaly with a wide spectrum of presentations. It is typically characterized by hypoplasia or aplasia of pectoral muscles, mammary hypoplasia and variably associated ipsilateral limb anomalies. Limb defects can vary in severity, ranging from syndactyly to phocomelia. Most cases are sporadic but familial cases with intrafamilial variability have been reported. Several theories have been proposed regarding the genesis of PS. Vascular disruption theory, “the subclavian artery supply disruption sequence” (SASDS) remains the most accepted pathogenic mechanism. Clinical presentations can vary in severity from syndactyly to phocomelia in the limbs and in the thorax, rib defects to severe chest wall anomalies with impaired lung function.
    [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]
  • Classific-Ation and Identification of Inherited Brachydactylies
    Journal of Medical Genetics, 1979, 16, 36-44 Classific-ation and identification of inherited brachydactylies NAOMI FITCH From the Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada SUMMARY A search for patterns of malformation in the brachydactylies has resulted in new ways to identify the different types. Type A-I can be characterised by a proportionate reduction of the middle phalanges. Type B is thought to be an amputation-like defect. In type C the fourth middle phalanx is usually the longest, and type E (Riccardi and Holmes, 1974) is characterised by short metacarpals and short distal phalanges. Short stature is usually present in type A-1 and type E brachydactyly (Riccardi and Holmes, 1974) and it may be present in some individuals with brachydactyly C. As short children have short hands, it is possible that in patients with very mild expressions of brachydactyly the cause of the short stature may be overlooked. It is suggested that in every child with propor- tionate short stature the hands should be carefully examined. If the hands are disproportionately short, if any distal creases are missing, if there is a shortening, however mild, of any finger, if any metacarpals are short, then it is important to have x-rays to look for brachydactyly A-1, C, or E. Much information is still needed. It is important in future reports to have skeletal surveys, pattern profile analyses, and to note the height of children with brachydactyly C. Most interesting of all will be when fetal limbs of each type become available for study.
    [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]
  • Free PDF Download
    Eur opean Rev iew for Med ical and Pharmacol ogical Sci ences 2015; 19: 4549-4552 Concomitance of types D and E brachydactyly: a case report T. TÜLAY KOCA 1, F. ÇILEDA ğ ÖZDEMIR 2 1Malatya State Hospital, Physical Medicine and Rehabilitation Clinic, Malatya, Turkey 2Inonu University School of Medicine, Department of Physical Medicine and Rehabilitation, Malatya, Turkey Abstract. – Here, we present of a 35-year old examination, it was determined that the patient, female diagnosed with an overlapping form of who had kyphotic posture and brachydactyly in non-syndromic brachydactyly types D and E the 3 rd and 4 th finger of the right hand, in the 4th with phenotypic and radiological signs. There finger of the left hand and clinodactyly with was observed to be shortening in the right hand th metacarpal of 3 rd and 4 th fingers and left hand brachdactyly in the 4 toe of the left foot (Fig - metacarpal of 4 th finger and left foot metatarsal ures 1 and 2). It was learned that these deformi - of 4 th toe. There was also shortening of the distal ties had been present since birth and a younger phalanx of the thumbs and thoracic kyphosis. sister had similar shortness of the fingers. There The syndromic form of brachydactyly type E is was no known systemic disease. The menstrual firmly associated with pseudo-hypopthyroidism cycle was regular and there was no known his - as resistance to pthyroid hormone is the most prominent feature. As the patient had normal tory of osteoporosis. In the laboratory tests, the stature, normal laboratory parameters and no results of full blood count, sedimentation, psychomotor developmental delay, the case was parathormon (PTH), vitamin D, calcium, alka - classified as isolated E type brachydactyly.
    [Show full text]