| Título: | Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome? |
| Autores: |
SHAKIBA, Marjan; Assistant Professor of Pediatric Pediatric Endocrinology, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran NEZHAD BIEGLARI, Habibe; Pediatrician ALAEE, Mohammad Reza; Associate Professor of Pediatric Endocrinology, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran |
| Fecha: | 2013-01-01 |
| Publicador: | Iranian Journal of Child Neurology |
| Fuente: |
 |
| Tipo: |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Case reports |
| Tema: | Oculodentodigital dysplasia; White matter lesions; Digital abnormality |
| Descripción: | How to cite this article: Shakiba M, Nejad Biglari H, Alaee MR. Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?Iran J Child Neurol Autumn 2012; 6(4): 51-54. Abstract Several syndromes have been recognized with digital abnormality and CNS involvement such as oculodentodigital dysplasia (ODDD), Mohr syndrome and Joubert syndrome. We report a patient who was referred to us because of the neurological signs suspicious of metabolic disorders. This case was a 22-year-old woman whose problems began 4 years ago with shortening of memory, ataxia, abnormal gait and diplopia which progressed slowly. She consulted many neurologists and was on treatment with the suspicion of vasculitis, but no response was detected. She had severe short stature, hypoplasia of the middle and distal phalanges of the first, second and third fingers, clinodactyly, abnormal toes, abnormal enamel and missing teeth. She had no characteristic faces of ODDD and ophthalmological abnormality. Our patient might be a variant of ODDD or a new syndrome with somatic and neurologic signs.References: Lohmann W, Beitrag zur Kenntnis des reinen Mikrophthalmus. Arch Augenheilkunde.1920;86:136-41.Berliner ML. Unilateral microphthalmia with congenital anterior synechiae and syndactyly. Arch Ophthalm. 1941;26:653-60.Bauer KH. Homoio transplantation von Epidermis bei eineiigen Zwillingen. Beitr Klin Chir. 1927;141:442-7.Pitter J, Svejda J. [The effect of x-rays as a cause of fetal misdevelopment]. Ophthalmologica. 1952 Jun;123(6):386-93.Judisch GF, Martin-Casals A, Hanson JW, Olin WH. Oculodentodigital dysplasia. Four new reports and a literature review. Arch Ophthalmol. 1979 May;97(5):878-84.Reardon W, Harbord MG, Hall-Craggs MA, Kendall B, Brett EM, Baraitser M. Central nervous system malformation in Mohr´s syndrome. J Med Genet. 1989 Oct;26(10):659-63.Ciliz D, Czturk S,Sakman B. Joubert syndrome case presentation. J Neurol Scie. (Turkish) 2010;27:214-8.Loddenkemper T, Grote K, Evers S, Oelerich M, Stogbauer F. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol. 2002 May;249(5):584-95.Aminabadi NA, Pourkazemi M, Oskouei SG, Jamali Z. Dental management of oculodentodigital dysplasia:a case report. J Oral Sci. 2010 Jun;52(2):337-42. |
| Idioma: | Inglés |
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