Oral-Facial-Digital Syndrome with Hirschsprung Disease - A New horizon
نویسندگان
چکیده
منابع مشابه
Oral-facial-digital syndrome.
Papillon-Leage and Psaume in 1954 reported a 'hereditary malformation of the buccal mucous membrane, and abnormal frena' (Papillon-Leage and Psaume, 1954a). Other French and German authors have since published full accounts of this condition, and Gorlin and Pindborg (1964) have summarized current knowledge of the syndrome in a recent textbook. They described it under the heading of orodigitofac...
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The oral-facial-digital syndrome type 1 is characterized by following abnormalities: pseudocleft of the upper lip, tongue lobulation, hamartomata on the tongue, alveolar frenulae, and clefting of the soft palate. We report a 9-month-old girl who was referred to our clinic due to facial dysmorphology in addition to cleft palate and multiple masses on the tongue which resulted in feeding problems...
متن کاملOtolaryngologic aspects of oral-facial-digital syndrome.
The oral-facial-digital (OFD) syndromes are a heterogeneous group of hereditary disorders which have in common the findings of oral abnormalities, facial dysmorphism, and hand/feet malformations. We report the case history of an 18-month-old male with cerebellar cysts, hydrocephalus, tongue hamartomas, and polydactyly. These findings are most consistent with OFD VI. The clinical features of eig...
متن کاملUsing the avian mutant talpid as a disease model for understanding the oral- facial phenotypes of Oral-facial-digital syndrome
Oral-facial-digital syndrome (OFD) is a ciliopathy characterized by oral-facial abnormalities including cleft lip/palate, broad nasal root, dental anomalies, micrognathia and glossal defects. In addition, these patients have several other characteristic abnormalities typical of a ciliopathy including polysyndactyly, polycystic kidneys and hypoplasia of the cerebellum. Recently, a subset of huma...
متن کاملUsing the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndrome
Oral-facial-digital syndrome (OFD) is a ciliopathy that is characterized by oral-facial abnormalities, including cleft lip and/or palate, broad nasal root, dental anomalies, micrognathia and glossal defects. In addition, these individuals have several other characteristic abnormalities that are typical of a ciliopathy, including polysyndactyly, polycystic kidneys and hypoplasia of the cerebellu...
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ژورنال
عنوان ژورنال: International Journal of Contemporary Medicine, Surgery and Radiology
سال: 2020
ISSN: 2565-4802,2565-4810
DOI: 10.21276/ijcmsr.2020.5.1.34