Oral-facial digital syndrome type 1.
نویسندگان
چکیده
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. Surgical intervention was done. Molecular analysis revealed absence of OFD gene.
منابع مشابه
[Oro-facial-digital syndrome type I: phenotypic variable expression].
Oral-facial-digital syndrome type 1 (OFD1; OMIM #311200) is a developmental disorder transmitted as an X-linked dominant condition with embryonic male lethality. It is associated with malformation of the oral cavity, face, and digits. Furthermore, it is characterized by the presence of milia, hypotrichosis and polycystic kidney disease. We present two cases with clinical diagnosis of oral-facia...
متن کاملA Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report
Oral-facial-digital syndrome as heterogeneous developmental conditions is characterized by abnormalities in the oral cavity, facial features and digits. Furthermore, central nervous system (CNS) abnormalities can also be part of this developmental disorder. At least 13 forms of OFDS based on their pattern of signs and symptoms have been identified so far. Type 1 which is now considered to be a ...
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Melkersson-Rosenthal syndrome is an uncommon disorder which is presented by a triad of lip swelling, facial nerve palsy, and a fissured tongue. A number of treatments have been reported for this syndrome with variable outcomes. We have reported a 38-year-old female patient with lower lip swelling and a fissured tongue on clinical examination. She was also suffering from facial nerve paralysis s...
متن کاملFour novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.
Oral-facial-digital syndrome type 1 (OFD1, MIM 311200) was first described by Papillon-Léage and Psaume in 1954 and further delineated in 1962 by Gorlin and Psaume, who called it orodigitofacial dysostosis. It is a multiple congenital anomaly syndrome characterised by malformations of the face, oral cavity, and hands and feet. The facial dysmorphic features include hypertelorism, frontal bossin...
متن کاملLETTER TO JMG Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1
Oral-facial-digital syndrome type 1 (OFD1, MIM 311200) was first described by Papillon-Léage and Psaume in 1954 and further delineated in 1962 by Gorlin and Psaume, who called it orodigitofacial dysostosis. It is a multiple congenital anomaly syndrome characterised by malformations of the face, oral cavity, and hands and feet. The facial dysmorphic features include hypertelorism, frontal bossin...
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ورودعنوان ژورنال:
- Ear, nose, & throat journal
دوره 76 11 شماره
صفحات -
تاریخ انتشار 1978