DOCSLIB.ORG

Cleidocranial Dysplasia Investigations, Yet Retrospective Exami- Nation Revealed the Presence of Classical Features(2,3)

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Cleidocranial Dysplasia Investigations, Yet Retrospective Exami- Nation Revealed the Presence of Classical Features(2,3) BRIEF REPORTS Cleidocranial Dysplasia investigations, yet retrospective exami- nation revealed the presence of classical features(2,3). Therefore, although there is a chance of missing the diagnosis clin- ically, yet a high index of suspicion and Anita Sharma confirmation by characteristic radiologi- cal features could help in making the Rohtash Yadav b Kuldip Ahlawat diagnosis. Case Report A 4-year-old first born male child of non-consanguineous Hindu parents was Cleidocranial dysplasia (CCD), is brought with the complaints of short characterized by short stature, typical stature and abnormal head shape. On facial features and variable degree of examination weight was 13 Kg (25th pan-skeletal anomalies affecting skull centile), height 87.5 cm (<10th centile) and clavicle(l). It is a relatively and head circumference was 50.7 cm underdiagnosed entity and due to its (between 75th to 90th centile). The child clinical features can be mistaken for a had brachycephalic skull; pronounced number of other conditions (e.g., frontal and parietal bossing; widely Noonan syndrome, Turner's syndrome, open anterior fontanella and sutures; hypothyroidism and other skeletal dys- small face; hypertelorism; depressed na- plasia), before the diagnosis is con- sal bridge; high arched palate and malar firmed radiologically(2). Three cases of hypoplasia. He had broad neck, sloping CCD have been reported in Indian liter- of shoulders (Fig. 7) and hypermobility ature where a variety of conditions have of shoulders (mother was aware of it). been considered and diagnosis was fi- The child had 20 primary teeth without nally confirmed radiologically(2,3). One any abnormality or history of delayed more case is being described who had tooth erruption. His physical develop- been diagnosed and treated twice for ment, intelligence, hearing, spine and rickets before he was referred to us. This rest of the systemic examination were case is being reported to highlight that normal. His radiological examination CCD should be considered in the showed missing of lateral half of clavi- differential diagnosis of short stature cle on both sides; spina bifida (Fig. 2); with features of skeletal immaturity. multiple wormian bones with widely Although in all the reported conditions open sutures; underdeveloped para- diagnosis was made after radiological nasal sinuses (Fig. 3), absent pulic rami and symphysis; and hypoplastic ischial From the Departments of Pediatrics-JI and bones (Fig. 4). Radiodiagnosis, Medical College, Rohtak. Reprint requests: Dr. Anita Sharma, 39/9J, Discussion Medical Enclave, Rohtak 124 001. Received for publication: May 6,1994; Cleidocranial dysostosis was first Accepted: October 4, 1994 588 VOLUME 32 -MAY 1995 mation, to dysplasia meaning abnormal tissue development, thereby reflecting the more generalized nature of the dis- ease process(5). It affects bones of intramembranous origin and endochon- dral bone formation of long bones in most of the skeleton are affected(6). There is a generalized failure of mid- line ossification resulting in patent fontanella, metopic suture, wormian bones, nasal deformity, non-union of mandibular symphysis, high arched pal- ate, cleft palate, hypoplasia or absence of clavicles, spina bifida and delayed closure of pubic symphysis(7). All these features were observed in the present case. The most characteristic and pathognomic skeletal feature is that one or both clavicles are frequently partially or in 10% cases completely absent(8,9). Usually rudimentary sternal and acromial stubs are present and the mid- clavicular position is absent. Clavicular deformity along with the dysplastic muscle attachments give rise to elongated neck, narrow drooping and hypermobility of shoulders with ten- dency to approximate shoulders anteri- orly(8). Clavicle is the first bone to be ossified in the 6th week of fetal life and is thus the most often affected bone(8). Other abnormalities can be short cranial base; hypoplastic maxillary, lacrimal and zygomatic bones and subsequent paranasal sinuses. Reported vertebral abnormalities are scoliosis, kyphosis, lordosis, and vertebral synostosis(8,9). It has been reported that syringomyelia should be considered in any patient of CCD with any neurologi- cal symptoms, progressive scoliosis not responding to conservative surgery, or 589 progressive scoliosis after skeletal matu- with dental abnormalities. Children ration(9). These features were not may have an initial normal or delayed present in this case. primary dentition. However, later on It is a relatively benign condition due to retention of deciduous teeth, and the patient can seek medical help slow development of succedaneous for short stature; dental abnormalities; dentition, multiple impacted permanent hearing loss; complications during child and supernumerary teeth they can have birth and dislocation of joints. The final prosthetic rehabilitation problem, infec- height attained by these children is sig- tions of tooth and jaw with tendency of nificantly lower than their normal coun- pathologic fractures(8). In the present terparts(7). Although psychosocial dis- case no dental abnormalities were orders associated with abnormal facial present. and body features may occur, patients The etiology of CCD is unknown. It have normal intelligence, with a overall can have dominant and recessive pat- good prognosis and normal life expect- tern of inheritance and 16% patients are ancy(8,9). reported to be sporadic(10). Often these patients initially present Because of its benign nature, CCD is 590 Fig. 3. X-ray skull (lateral) showing widely open sutures and wormian bones perhaps an under reported entity(2). It 2. Mehta L, Verma 1C. Cleidocranial dys- should be considered in the differential plasia under-diagnosed and misdiag- diagnosis of short stature with skeletal nosed. Indian J Pediatr 1992, 59: 633- immaturities like abnormally large 642. fontanella and wormian bones. Relevant 3. DeNQAgchiAB, Singh J,Sikund KK. clinical examination should include Cleidocranial dysostosis. Indian Pediatr 1981,18: 495. palpation of clavicles. 4. Martin S. Sur Undepacement natural REFERENCES de la clavicle. J Med Chir Pharmacol 1765, 23: 456. 1. Marie P, Sainton P. Sur La dysostose cleidocranienne hereditaire. Rev 5. Sillence DO, Ritchie HE, Selby PB. An- Neurol 1898, 6: 835. imal model; skeletal anomalies in mice 591 with cleiciocranial dysplasia. Am J sia. J Oral Maxillofac Surg 1991, 49: Med Genet 1987,27; 75. 405-409. 6. Short DW. A case of craniocleidal 9. Dore DD, MacEven GD, Boulos MI. dysostosis presenting with vascular Cleidocranial dysostosis and syringo- complications. Br J Surg 1979, 66: 596. melia. Clin Orthop Rel Res 1987, 214: 7. Jensen B. Somatic development in 229-234. cleidocranial dysostosis. Am J Med 10. Forland M. Cleidocranial dysostosis: A Genet 1990, 35: 69-74. review of the syndrome and report 8. Nebgen D, Wood RS, Shapiro RD. of a sporadic case with hereditary Management of a mandibular fracture transmission. Am J Med 1962,33: 792- in a patient with cleidocranial dyspla- 799. 592 .
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]
  • Genes in Eyecare Geneseyedoc 3 W.M
    Genes in Eyecare geneseyedoc 3 W.M. Lyle and T.D. Williams 15 Mar 04 This information has been gathered from several sources; however, the principal source is V. A. McKusick’s Mendelian Inheritance in Man on CD-ROM. Baltimore, Johns Hopkins University Press, 1998. Other sources include McKusick’s, Mendelian Inheritance in Man. Catalogs of Human Genes and Genetic Disorders. Baltimore. Johns Hopkins University Press 1998 (12th edition). http://www.ncbi.nlm.nih.gov/Omim See also S.P.Daiger, L.S. Sullivan, and B.J.F. Rossiter Ret Net http://www.sph.uth.tmc.edu/Retnet disease.htm/. Also E.I. Traboulsi’s, Genetic Diseases of the Eye, New York, Oxford University Press, 1998. And Genetics in Primary Eyecare and Clinical Medicine by M.R. Seashore and R.S.Wappner, Appleton and Lange 1996. M. Ridley’s book Genome published in 2000 by Perennial provides additional information. Ridley estimates that we have 60,000 to 80,000 genes. See also R.M. Henig’s book The Monk in the Garden: The Lost and Found Genius of Gregor Mendel, published by Houghton Mifflin in 2001 which tells about the Father of Genetics. The 3rd edition of F. H. Roy’s book Ocular Syndromes and Systemic Diseases published by Lippincott Williams & Wilkins in 2002 facilitates differential diagnosis. Additional information is provided in D. Pavan-Langston’s Manual of Ocular Diagnosis and Therapy (5th edition) published by Lippincott Williams & Wilkins in 2002. M.A. Foote wrote Basic Human Genetics for Medical Writers in the AMWA Journal 2002;17:7-17. A compilation such as this might suggest that one gene = one disease.
    [Show full text]
  • RD-Action Matchmaker – Summary of Disease Expertise Recorded Under
    Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping Thematic Reported expertise of those completing the EURORDIS Member perspectives on Grouping matchmaker under each heading Grouping RD Thematically Rare Bone Achondroplasia/Hypochondroplasia Achondroplasia Amelia skeletal dysplasia’s including Achondroplasia/Growth hormone cleidocranial dysostosis, arthrogryposis deficiency/MPS/Turner Brachydactyly chondrodysplasia punctate Fibrous dysplasia of bone Collagenopathy and oncologic disease such as Fibrodysplasia ossificans progressive Li-Fraumeni syndrome Osteogenesis imperfecta Congenital hand and fore-foot conditions Sterno Costo Clavicular Hyperostosis Disorders of Sex Development Duchenne Muscular Dystrophy Ehlers –Danlos syndrome Fibrodysplasia Ossificans Progressiva Growth disorders Hypoparathyroidism Hypophosphatemic rickets & Nutritional Rickets Hypophosphatasia Jeune’s syndrome Limb reduction defects Madelung disease Metabolic Osteoporosis Multiple Hereditary Exostoses Osteogenesis imperfecta Osteoporosis Paediatric Osteoporosis Paget’s disease Phocomelia Pseudohypoparathyroidism Radial dysplasia Skeletal dysplasia Thanatophoric dwarfism Ulna dysplasia Rare Cancer and Adrenocortical tumours Acute monoblastic leukaemia Tumours Carcinoid tumours Brain tumour Craniopharyngioma Colon cancer, familial nonpolyposis Embryonal tumours of CNS Craniopharyngioma Ependymoma Desmoid disease Epithelial thymic tumours in
    [Show full text]
  • Pushing the Limits of Prenatal Ultrasound: a Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3Q Duplication
    reproductive medicine Case Report Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication Olivier Leroij 1, Lennart Van der Veeken 2,*, Bettina Blaumeiser 3 and Katrien Janssens 3 1 Faculty of Medicine, University of Antwerp, 2610 Wilrijk, Belgium; [email protected] 2 Department of Obstetrics and Gynaecology, University Hospital Antwerp, 2650 Edegem, Belgium 3 Department of Medical Genetics, University Hospital and University of Antwerp, 2650 Edegem, Belgium; [email protected] (B.B.); [email protected] (K.J.) * Correspondence: [email protected] Abstract: We present a case of a fetus with cranial abnormalities typical of open spina bifida but with an intact spine shown on both ultrasound and fetal MRI. Expert ultrasound examination revealed a very small tract between the spine and the skin, and a postmortem examination confirmed the diagnosis of a dorsal dermal sinus. Genetic analysis found a mosaic 3q23q27 duplication in the form of a marker chromosome. This case emphasizes that meticulous prenatal ultrasound examination has the potential to diagnose even closed subtypes of neural tube defects. Furthermore, with cerebral anomalies suggesting a spina bifida, other imaging techniques together with genetic tests and measurement of alpha-fetoprotein in the amniotic fluid should be performed. Citation: Leroij, O.; Van der Veeken, Keywords: dorsal dermal sinus; Arnold–Chiari anomaly; 3q23q27 duplication; mosaic; marker chro- L.; Blaumeiser, B.; Janssens, K. mosome Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q 1.
    [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]
  • 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.
    [Show full text]
  • Autosomal Recessive Klippel-Feil Syndrome
    J Med Genet: first published as 10.1136/jmg.19.2.130 on 1 April 1982. Downloaded from Journal ofMedical Genetics, 1982, 19, 130-134 Autosomal recessive Klippel-Feil syndrome ELIAS OLIVEIRA DA SILVA From the Departamento de Biologia Geral, SecCdo de Genetica, Universidade Federal de Pernambuco, and Instituto Materno-Infantil de Pernambuco (IMIP), Recife, Brazil SUMMARY An inbred kindred with 12 cases of Klippel-Feil syndrome (seven females and five males) is reported. Inheritance is undoubtedly autosomal recessive. The main characteristic of the syndrome is fusion of cervical vertebrae. In 1912, Klippel and Feill reported the first clinical Methods details and necropsy findings of a syndrome char- acterised by the triad short or absent neck, severe A total of 59 members of the family, including all limitation of head movement, and low posterior living affected persons (11), were clinically examined hairline. An Egyptian mummy (from 500 BC) is the and radiological studies were performed in eight oldest subject in whom Klippel-Feil syndrome has patients. The other three refused to submit to been seen.2 Another interesting observation is the x-ray examination. The patients ranged in age from similarity between the figure of an old man depicted 9 to 59 years. by the English painter William Blake (1757-1827) The genealogical data was collected with the co- and the appearance of persons with Klippel-Feil operation of people in four generations and, in case syndrome.3 The incidence of the syndrome is of doubtful information, it was checked with estimated at about 1 in 42 000 births.4 Some authors different members of the family.
    [Show full text]
  • Cleidocranial Dysplasia with Spina Bifida: Case Report [I] Displasia Cleido-Craniana Com Espinha Bífida: Relato De Caso
    ISSN 1807-5274 Rev. Clín. Pesq. Odontol., Curitiba, v. 6, n. 2, p. 179-184, maio/ago. 2010 Licenciado sob uma Licença Creative Commons [T] CleidoCranial dysplasia with spina bifida: case report [I] Displasia cleido-craniana com espinha bífida: relato de caso [A] Mubeen Khan[a], rai puja[b] [a] Professor and head of Department of Oral Medicine and Radiology Government Dental College and Research Institute, Bangalore - India. [b] Postgraduate student, Department of Oral Medicine and Radiology, Government Dental College and Research Institute, Bangalore - India, e-mail: [email protected] [R] abstract oBJeCtiVe: To present and discuss a case of a rare disease in a 35 year old otherwise healthy male Indian in origin reported to the Department of Oral Medicine and Radiology of the Dental College and Research Institute, Bangalore, India. disCUssion: The cleidocranial dysplasia is a rare disease which can occur either spontaneously (40%) or by an autosomal dominant inheritance. The dentists are, most of the times, the first professionals who patients look for to solve their problem, since there is a delay in the eruption and /or absence of permanent teeth. In the present case multiple missing teeth was the reason for patient’s visit to odontologist. ConClUsion: An early diagnosis allows proper orientation for the treatment, offering a better life quality for the patient. [P] Keywords: Cleidocranial dysplasia. Aplastic clavicles. Delayed eruption. Supernumerary teeth. Spina bifida. [B] Resumo OBJETIVO: Apresentar e discutir um caso de doença rara em paciente masculino, de 35 anos de idade, sadio, de modo geral, de origem indiana, que foi encaminhado ao Departamento de Medicina Bucal e Radiologia da Escola de Odontologia e Instituto de Pesquisa, Bangalore, Índia.
    [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]
  • Spina Bifida
    A Guide for School Personnel Working With Students With Spina Bifida Developed by The Specialized Health Needs Interagency Collaboration Patty Porter, M.S. Barbara Obst, R.N. Andrew Zabel, Ph.D. In partnership between Kennedy Krieger Institute and the Maryland State Department of Education Division of Special Education/Early Intervention Services December 2009 A Guide for School Personnel Working With Students With Spina Bifida Developed by the Kennedy Krieger Institute in partnership with the Maryland State Department of Education, Division of Special Education/Early Intervention Services December 2009 This document was produced by the Maryland State Department of Education, Division of Special Education/Early Intervention Services through IDEA Part B Grant #H027A0900035A, U.S. Department of Education, Office of Special Education and Rehabilitative Services. The views expressed herein do not necessarily reflect the views of the U.S. Department of Education or any other federal agency and should not be regarded as such. The Division of Special Education/Early Intervention Services receives funding from the Office of Special Education Program, Office of Special Education and Rehabilitative Services, U.S. Department of Education. This document is copyright free. Readers are encouraged to share; however, please credit the MSDE Division of Special Education/Early Intervention Services and Kennedy Krieger Institute. The Maryland State Department of Education does not discriminate on the basis of race, color, sex, age, national origin, religion, disability, or sexual orientation in matters affecting employment or in providing access to programs. For inquiries related to Department policy, contact the Equity Assurance and Compliance Branch, Office of the Deputy State Superintendent for Administration, Maryland State Department of Education, 200 West Baltimore Street, 6th Floor, Baltimore, MD 21201-2595, 410-767-0433, Fax 410-767-0431, TTY/TDD 410-333-6442.
    [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]