Polydactyly of the Hand
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Sara Aghamohammadi, M.D
Sara Aghamohammadi, M.D. Philosophy of Care It is a privilege to care for children and their families during the time of their critical illness. I strive to incorporate the science and art of medicine in my everyday practice such that each child and family receives the best medical care in a supportive and respectful environment. Having grown up in the San Joaquin Valley, I am honored to join UC Davis Children's Hospital's team and contribute to the well-being of our community's children. Clinical Interests Dr. Aghamohammadi has always had a passion for education, she enjoys teaching principles of medicine, pediatrics, and critical care to medical students, residents, and nurses alike. Her clinical interests include standardization of practice in the PICU through the use of protocols. Her team has successfully implemented a sedation and analgesia protocol in the PICU, and she helped develop the high-flow nasal cannula protocol for bronchiolitis. Additionally, she has been involved in the development of pediatric pain order sets and is part of a multi-disciplinary team to address acute and chronic pain in pediatric patients. Research/Academic Interests Dr. Aghamohammadi has been passionate about Physician Health and Well-being and heads the Wellness Committee for the Department of Pediatrics. Additionally, she is a part of the Department Wellness Champions for the UC Davis Health System and has given presentations on the importance of Physician Wellness. After completing training in Physician Health and Well-being, she now serves as a mentor for the Train-the-Trainer Physician Health and Well-being Fellowship. -
Type II Familial Synpolydactyly: Report on Two Families with an Emphasis on Variations of Expression
European Journal of Human Genetics (2011) 19, 112–114 & 2011 Macmillan Publishers Limited All rights reserved 1018-4813/11 www.nature.com/ejhg SHORT REPORT Type II familial synpolydactyly: report on two families with an emphasis on variations of expression Mohammad M Al-Qattan*,1 Type II familial synpolydactyly is rare and is known to have variable expression. However, no previous papers have attempted to review these variations. The aim of this paper was to review these variations and show several of these variable expressions in two families. The classic features of type II familial synpolydactyly are bilateral synpolydactyly of the third web spaces of the hands and bilateral synpolydactyly of the fourth web spaces of the feet. Several members of the two families reported in this paper showed the following variations: the third web spaces of the hands showing syndactyly without the polydactyly, normal feet, concurrent polydactyly of the little finger, concurrent clinodactyly of the little finger and the ‘homozygous’ phenotype. It was concluded that variable expressions of type II familial synpolydactyly are common and awareness of such variations is important to clinicians. European Journal of Human Genetics (2011) 19, 112–114; doi:10.1038/ejhg.2010.127; published online 18 August 2010 Keywords: type II familial syndactyly; inherited synpolydactyly; variations of expression INTRODUCTION CASE REPORTS Type II familial synpolydactyly is rare and it has been reported in o30 The first family families.1–12 It is characterized by bilateral synpolydactyly of the third The family had a history of synpolydactyly type II for several web spaces of the hands and bilateral synpolydactyly of the fourth web generations on the mother’s side (Table 1). -
The Genetic Basis for Skeletal Diseases
insight review articles The genetic basis for skeletal diseases Elazar Zelzer & Bjorn R. Olsen Harvard Medical School, Department of Cell Biology, 240 Longwood Avenue, Boston, Massachusetts 02115, USA (e-mail: [email protected]) We walk, run, work and play, paying little attention to our bones, their joints and their muscle connections, because the system works. Evolution has refined robust genetic mechanisms for skeletal development and growth that are able to direct the formation of a complex, yet wonderfully adaptable organ system. How is it done? Recent studies of rare genetic diseases have identified many of the critical transcription factors and signalling pathways specifying the normal development of bones, confirming the wisdom of William Harvey when he said: “nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path”. enetic studies of diseases that affect skeletal differentiation to cartilage cells (chondrocytes) or bone cells development and growth are providing (osteoblasts) within the condensations. Subsequent growth invaluable insights into the roles not only of during the organogenesis phase generates cartilage models individual genes, but also of entire (anlagen) of future bones (as in limb bones) or membranous developmental pathways. Different mutations bones (as in the cranial vault) (Fig. 1). The cartilage anlagen Gin the same gene may result in a range of abnormalities, are replaced by bone and marrow in a process called endo- and disease ‘families’ are frequently caused by mutations in chondral ossification. Finally, a process of growth and components of the same pathway. -
Genetics of Congenital Hand Anomalies
G. C. Schwabe1 S. Mundlos2 Genetics of Congenital Hand Anomalies Die Genetik angeborener Handfehlbildungen Original Article Abstract Zusammenfassung Congenital limb malformations exhibit a wide spectrum of phe- Angeborene Handfehlbildungen sind durch ein breites Spektrum notypic manifestations and may occur as an isolated malforma- an phänotypischen Manifestationen gekennzeichnet. Sie treten tion and as part of a syndrome. They are individually rare, but als isolierte Malformation oder als Teil verschiedener Syndrome due to their overall frequency and severity they are of clinical auf. Die einzelnen Formen kongenitaler Handfehlbildungen sind relevance. In recent years, increasing knowledge of the molecu- selten, besitzen aber aufgrund ihrer Häufigkeit insgesamt und lar basis of embryonic development has significantly enhanced der hohen Belastung für Betroffene erhebliche klinische Rele- our understanding of congenital limb malformations. In addi- vanz. Die fortschreitende Erkenntnis über die molekularen Me- tion, genetic studies have revealed the molecular basis of an in- chanismen der Embryonalentwicklung haben in den letzten Jah- creasing number of conditions with primary or secondary limb ren wesentlich dazu beigetragen, die genetischen Ursachen kon- involvement. The molecular findings have led to a regrouping of genitaler Malformationen besser zu verstehen. Der hohe Grad an malformations in genetic terms. However, the establishment of phänotypischer Variabilität kongenitaler Handfehlbildungen er- precise genotype-phenotype correlations for limb malforma- schwert jedoch eine Etablierung präziser Genotyp-Phänotyp- tions is difficult due to the high degree of phenotypic variability. Korrelationen. In diesem Übersichtsartikel präsentieren wir das We present an overview of congenital limb malformations based Spektrum kongenitaler Malformationen, basierend auf einer ent- 85 on an anatomic and genetic concept reflecting recent molecular wicklungsbiologischen, anatomischen und genetischen Klassifi- and developmental insights. -
Syndromic Ear Anomalies and Renal Ultrasounds
Syndromic Ear Anomalies and Renal Ultrasounds Raymond Y. Wang, MD*; Dawn L. Earl, RN, CPNP‡; Robert O. Ruder, MD§; and John M. Graham, Jr, MD, ScD‡ ABSTRACT. Objective. Although many pediatricians cific MCA syndromes that have high incidences of renal pursue renal ultrasonography when patients are noted to anomalies. These include CHARGE association, Townes- have external ear malformations, there is much confusion Brocks syndrome, branchio-oto-renal syndrome, Nager over which specific ear malformations do and do not syndrome, Miller syndrome, and diabetic embryopathy. require imaging. The objective of this study was to de- Patients with auricular anomalies should be assessed lineate characteristics of a child with external ear malfor- carefully for accompanying dysmorphic features, includ- mations that suggest a greater risk of renal anomalies. We ing facial asymmetry; colobomas of the lid, iris, and highlight several multiple congenital anomaly (MCA) retina; choanal atresia; jaw hypoplasia; branchial cysts or syndromes that should be considered in a patient who sinuses; cardiac murmurs; distal limb anomalies; and has both ear and renal anomalies. imperforate or anteriorly placed anus. If any of these Methods. Charts of patients who had ear anomalies features are present, then a renal ultrasound is useful not and were seen for clinical genetics evaluations between only in discovering renal anomalies but also in the diag- 1981 and 2000 at Cedars-Sinai Medical Center in Los nosis and management of MCA syndromes themselves. Angeles and Dartmouth-Hitchcock Medical Center in A renal ultrasound should be performed in patients with New Hampshire were reviewed retrospectively. Only pa- isolated preauricular pits, cup ears, or any other ear tients who underwent renal ultrasound were included in anomaly accompanied by 1 or more of the following: the chart review. -
Macrocephaly Information Sheet 6-13-19
Next Generation Sequencing Panel for Macrocephaly Clinical Features: Macrocephaly refers to an abnormally large head, OFC greater than 98th percentile, inclusive of the scalp, cranial bone and intracranial contents. Megalencephaly, brain weight/volume ratio greater than 98th percentile, results from true enlargement of the brain parenchyma [1]. Megalencephaly is typically accompanied by macrocephaly, however macrocephaly can occur in the absence of megalencephaly [2]. Both macrocephaly and megalencephaly can been seen as isolated clinical findings as well as clinical features of a mutli-systemic syndromic diagnosis. Our Macrocephaly Panel includes analysis of the 36 genes listed below. Macrocephaly Sequencing Panel ASXL2 GLI3 MTOR PPP2R5D TCF20 BRWD3 GPC3 NFIA PTEN TBC1D7 CHD4 HEPACAM NFIX RAB39B UPF3B CHD8 HERC1 NONO RIN2 ZBTB20 CUL4B KPTN NSD1 RNF125 DNMT3A MED12 OFD1 RNF135 EED MITF PIGA SEC23B EZH2 MLC1 PPP1CB SETD2 Gene Clinical Features Details ASXL2 Shashi-Pena Shashi et al. (2016) found that six patients with developmental delay, syndrome macrocephaly, and dysmorphic features were found to have de novo truncating variants in ASXL2 [3]. Distinguishing features were macrocephaly, absence of growth retardation, and variability in the degree of intellectual disabilities The phenotype also consisted of prominent eyes, arched eyebrows, hypertelorism, a glabellar nevus flammeus, neonatal feeding difficulties and hypotonia. BRWD3 X-linked intellectual Truncating mutations in the BRWD3 gene have been described in males with disability nonsyndromic intellectual disability and macrocephaly [4]. Other features include a prominent forehead and large cupped ears. CHD4 Sifrim-Hitz-Weiss Weiss et al., 2016, identified five individuals with de novo missense variants in the syndrome CHD4 gene with intellectual disabilities and distinctive facial dysmorphisms [5]. -
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. -
Appendix A: Organisation of a Craniofacial Unit
Appendix A: Organisation of a Craniofacial Unit The requirements of patients with craniofacial abnormalities are very complex and demand a multidisciplinary approach. Many body systems are affected, and every detail of patient management has to be given due attention. Care begins at birth and continues until the patient and his family have been relieved of the burden of the anomaly. A team is needed, capable of delivering expert patient care, and representative of all the relevant disciplines. Data, in the form of histories, physical examinations, and special investigations, are needed in planning treatment, and such data should be used to the maximum scientific effect, to improve present methods of management, still far from satisfactory, and to expand knowledge of the biology of cranial growth and its disorders. Craniofacial Units Sporadic craniofacial procedures performed by a surgeon on an irregular basis invite disaster. Tessier (1971a) estimated that each craniofacial centre should serve a population of 10 to 20 million people, provided that the team performed only craniofacial surgery and treated at least 50 new cases annually. As a consequence of Tessier's example and teaching there are now centres of acknowledged excellence in Paris and Nancy, attracting patients not only from France but also from North Africa and elsewhere. In North America there are now important craniofacial centres in Philadelphia, New York, Boston, Toronto, and Mexico City. Munro (1975) proposed that North America should be divided into seven regions, six for the United States and one for Canada, each serving populations of 20 to 40 million people. He believed that such centres would allow a concentration of multidisciplinary skills and accumulation of experience in the treatment of craniofacial anomalies. -
Massachusetts Birth Defects 2002-2003
Massachusetts Birth Defects 2002-2003 Massachusetts Birth Defects Monitoring Program Bureau of Family Health and Nutrition Massachusetts Department of Public Health January 2008 Massachusetts Birth Defects 2002-2003 Deval L. Patrick, Governor Timothy P. Murray, Lieutenant Governor JudyAnn Bigby, MD, Secretary, Executive Office of Health and Human Services John Auerbach, Commissioner, Massachusetts Department of Public Health Sally Fogerty, Director, Bureau of Family Health and Nutrition Marlene Anderka, Director, Massachusetts Center for Birth Defects Research and Prevention Linda Casey, Administrative Director, Massachusetts Center for Birth Defects Research and Prevention Cathleen Higgins, Birth Defects Surveillance Coordinator Massachusetts Department of Public Health 617-624-5510 January 2008 Acknowledgements This report was prepared by the staff of the Massachusetts Center for Birth Defects Research and Prevention (MCBDRP) including: Marlene Anderka, Linda Baptiste, Elizabeth Bingay, Joe Burgio, Linda Casey, Xiangmei Gu, Cathleen Higgins, Angela Lin, Rebecca Lovering, and Na Wang. Data in this report have been collected through the efforts of the field staff of the MCBDRP including: Roberta Aucoin, Dorothy Cichonski, Daniel Sexton, Marie-Noel Westgate and Susan Winship. We would like to acknowledge the following individuals for their time and commitment to supporting our efforts in improving the MCBDRP. Lewis Holmes, MD, Massachusetts General Hospital Carol Louik, ScD, Slone Epidemiology Center, Boston University Allen Mitchell, -
Angeborene Fehlbildungen Der Extremitäten
Aus der Klinik für Orthopädie (Direktor: Prof. Dr. med. J. Hassenpflug) der Medizinischen Fakultät der Christian-Albrechts-Universität zu Kiel Die angeborenen Fehlbildungen der oberen und unteren Extremitäten in der Orthopädischen Universitätsklinik Kiel von 1974-2001 Inauguraldissertation zur Erlangung der Doktorwürde vorgelegt von Karsten Naused aus Wolfenbüttel Kiel 2014 1. Berichterstatter: Prof. Dr. J. Hassenpflug, Klinik für Orthopädie 2. Berichterstatter: Prof. Dr. M. Schrappe, Klinik für Allgemeine Pädiatrie Tag der mündlichen Prüfung: 12.06.2014 Zum Druck genehmigt, Kiel, den 12.06.2014 gez.: PD Dr. S. Lippross, Klinik Unfallchirurgie (Prüfer) Prof. Dr. A. Seekamp, Klinik Unfallchirurgie (Beisitzer) Prof. Dr. Johann Roider, Vorsitzender des Ausschusses für Promotion Inhaltsverzeichnis 1. Einleitung Seite 1.1 Vorbemerkung.................................................................................................1 1.2 Historisches.....................................................................................................2 1.3 Embryologie.....................................................................................................3 1.4 Ätiologie und Pathogenese..............................................................................6 2. Patientengut und Methode 2.1 Quellen der Patientendaten...........................................................................10 2.2 Dokumentation der Daten..............................................................................12 2.3 Datenabfrage.................................................................................................13 -
Hand Surgery
Plastic & reconstructive surgery د.ﻣﺤﻤﺪ ﺟﺎﺳﻢ ﻣﺤﻤﺪ Lec 2 اﺧﺗﺻﺎص اﻟﺟراﺣﺔ اﻟﺗﻘوﯾﻣﯾﺔ 5TH Stage HAND SURGERY Congenital hand abnormalities SWANSON CLASSIFICATION OF CONGENITAL UPPER LIMB ABNORMALITIES I. Failure of Formation of Parts A. Transverse: truncated limb B. Longitudinal: Radial club hand (Preaxial Deficiency) Cleft hand (Central Deficiency) Ulnar club hand(postaxial deficiency) Phocomelia (Intercalary Deficiency) II. Failure of Differentiation or Separation of Parts A. Symphalangism B. Syndactyly C. Contracture: Arthrogryposis Trigger finger Clasped thumb Camptodactyly Clinodactyly III. Duplication: Polydactyly IV. Overgrowth: Macrodactyly V. Undergrowth: Thumb hypoplasia VI. Congenital Constriction Ring Syndrome VII. Generalized Skeletal Abnormalities and Syndromes. Preaxial Deficiency: Radial Club Hand: They are typically sporadic and unilateral, more common in males, and more common on the right side Radial dysplasias are commonly associated with syndromes including Fanconi anemia, thrombocytopenia absent radius (TAR) syndrome, Holt-Oram syndrome (associated with cardiac septal defects), and VATER(vertebral abnormality, anal imperforation, tracheoesophageal fistula, radial, or renal anomalies. The clinical manifestation of radial club hand is a shortened forearm with radial deviation at the wrist. The pathology affects all structures on the preaxial side of the limb: skeleton, musculotendinous units, joints, neurovascular structures, and soft tissue. CLASSIFICATION OF RADIAL DYSPLASIA I-Short radius II- Hypoplastic radius III- Partial absence of radius IV- Total absence of radius Management Type I mild type II dysplasia may only require splinting . Centralization or radialization of wrist with tendon transfer are the treatments of choice in severe type II, and in types III and IV; repair should be performed at 6 to 12 months of age. In pt with absent thumb, pollicization should be done after 6 month from 1st operation. -
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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.