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Chondroectodermal Syndrome

Jan, A.Ullah.; Ahmad, S.; Cheema, T.Ahmad.; Ullah, F.; Waqar, M.; Hussain, B.

Journal of Ayub Medical College Abbottabad Jamc 30(3): 473-475

2018

ISSN/ISBN: 1025-9589
PMID: 30465389
Document Number: 696002
Chondroectodermal syndrome or Ellis Van Creveld (EVC) is a rare autosomal recessive congenital disorder. It was first described by Richard W.B.Ellis and Simon Van Creveld in 1940. Parental consanguinity is present in about 30% of the cases. A large number of cases were reported in Amish population of Lancaster County, Pennsylvania USA and also in Aboriginal community of Australia in 1964. The incidence in Amish population is 1/5000 live births and in general population 7/1,000,000. There are only 150 cases reported worldwide. The principal feature of this syndrome is a tetrad of disproportionate dwarfism, ectodermal dysplasia, bilateral postaxial polydactyly and congenital heart defects.

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Zoch-Zwierz, W.; Iwaszkiewicz-Powłowska, A.; Wierciński, R.; Hubert, E.; Winiecka, W.; Biernaka, A. 1992: Ellis van Creveld syndrome (chondroectodermal dysplasia) in a 7 year old girl Wiadomosci Lekarskie 45(21-22): 866-869
Erzen, M.; Stanescu, R.; Stanescu, V.; Maroteaux, P. 1988: Comparative histopathology of the growth cartilage in short-rib polydactyly syndromes type i and type IIi and in chondroectodermal dysplasia Annales de Genetique 31(3): 144-150
Al-Mayouf, S. 2005: The new syndrome is not really a new syndrome. Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis, and arthropathy Saudi Medical Journal 26(7): 1161; Author Reply 1161-2
Narbay, G.; Meire, F.; Verloes, A.; Casteels, I.; Devos, E. 1996: Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases Bulletin de la Societe Belge d'Ophtalmologie 261: 65-70
Reichenbach, H.; Hörmann, D.; Theile, H. 1993: A further case with Baller-Gerold syndrome (craniosynostosis--radial aplasia syndrome)--overview and new viewpoints on a rare syndrome Kinderarztliche Praxis 61(4-5): 161-167
Takatsu, T.; Nagao, H.; Uehara, H.; Hanamoto, S.; Tanaka, T. 1976: Wolff-Parkinson-White syndrome--classification and diagnosis of pre-excitation syndrome and Lown-Ganong-Levine syndrome Nihon Rinsho. Japanese Journal of Clinical Medicine 34(9): 2768-2787
Verloes, A.; Lesenfants, S.; Philippet, B.; Iyawa, A.; Laloux, F.; Koulischer, L. 1996: Microcephaly, macrotia, unusual mimics and mental retardation syndrome: new syndrome or variant of De Lange type 2 syndrome Genetic Counseling 7(4): 277-282
Gernez, A. 1949: Sideropic Dysphagia and Esophageal Membranes; Plummer and Vinson Syndrome; Kelly and Paterson Syndrome; Waldenstrom and Kjellberg Syndrome La Presse Medicale 57(26): 362-364
Barraquer Bordás, L. 1990: The "biparietal rejection syndrome" versus "environmental dependency syndrome" and Kluver-Bucy syndrome Archivos de Neurobiologia 53(1): 57-59
Weitzenblum, E. 1992: Pickwickian syndrome reconsidered. Relations between sleep apnea syndrome and obesity-hypoventilation syndrome La Revue du Praticien 42(15): 1920-1924
Yamauchi, K. 1983: Immunologic abnormalities and classification of Sjögren's syndrome--Mikulicz syndrome and its relationship to sicca syndrome Nihon Rinsho. Japanese Journal of Clinical Medicine 41(1): 224-227
Joseph, A.B. 1986: Cotard's syndrome in a patient with coexistent Capgras' syndrome, syndrome of subjective doubles, and palinopsia Journal of Clinical Psychiatry 47(12): 605-606
Le Merrer, M.; Verloes, A.; Narcy, P.; Briard, M.L. 1988: Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome) Journal de Genetique Humaine 36(3): 257-264
Takeuchi, K. 2002: Bartter syndrome, Gitelman syndrome, Liddle syndrome Nihon Rinsho. Japanese Journal of Clinical Medicine 60(Suppl 1): 532-540
Yang, Z.; Liu, X.; Yang, X.; Liao, Q.-P. 2021: Screening and identification of Lynch syndrome: a systematic review of the frequency of Lynch syndrome-associated clinicopathologic and molecular characteristics in Lynch syndrome gynecologic cancers Translational Cancer Research 10(10): 4523-4531
Ortizmendez, V.M.; Beltetondeleon, E.L.; Olverahidalgo, C. 1985: Síndrome de insuficiencia respiratoria progressiva del adulto en el ninõ (sindrome de pulmōn de choque) - Syndrome d'insuffisance respiratoire progressive de l'adulte chez l'enfant (syndrome du poumon de choc) - Actuel respiratory distress syndrome in children Boletin Medico del Hospital Infantil de Mexico (Spanish Edition) 42(3): 164-168
Cicogna, R.; Visioli, O. 1988: A new reflex cardiovascular syndrome: recurrent vasodepressive syncope caused by lesions or tumors of the parapharyngeal space. Etiopathogenesis, clinical picture, differential diagnosis with carotid sinus syndrome and glossopharyngeal neuralgia-asystole syndrome. Therapy by intracranial resection of the 9th cranial nerve Giornale Italiano di Cardiologia 18(5): 361-368
Wiedemann, H.R.; Dibbern, H. 1980: The characteristic syndrome. "Syndrome" of the extensive animal hide nevus with satellite nevi Die Medizinische Welt 31(6): 224-225
Usukura, N.; Hara, S.; Hasatani, K.; Sato, T.; Nishizawa, C. 1974: Case of Marfan's syndrome with symptoms of Bartter's syndrome due to renal tubular acidosis Nihon Rinsho. Japanese Journal of Clinical Medicine 32(9): 2956-2964
Bărbuceanu, S. 2003: Jaffe syndrome (primitive syndrome with retraction of the internal macular limiting membrane) Oftalmologia 56(1): 94-97