Oral-facial-digital syndrome type II: Transitional type between Mohr and Varadi

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Mohr-Claussen syndrome or oro-facial-digital syndrome (OFDS) type-II.

The Mohr-Claussen syndrome or oro-facial-digital syndrome type II (OFD-II)] is characterised by tongue lobulation, midline cleft lip, high arched or cleft palate, broad nasal root with wide bifid nasal tip, hypertelorism, micrognathia, brachydactyly, syndactyly and polydactyly, bilateral reduplicated hallux, conductive hearing loss and normal intelligence. In view of the different modes of inhe...

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Oral-facial digital syndrome type 1.

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...

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Oro-facial-digital syndrome type II.

Oro-facial-digital syndrome type II (OFD-II) is characterized by frenulated tongue, midline cleft lip, high arched or cleft palate, micrognathia, syndactyly and polydactyly, bilateral reduplicated hallux, conductive hearing loss, choroidal coloboma and normal intelligence. There are nine forms of oro-facial-digital syndromes with different modes of inheritance. A young female with features of o...

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ژورنال

عنوان ژورنال: Egyptian Journal of Medical Human Genetics

سال: 2013

ISSN: 1110-8630

DOI: 10.1016/j.ejmhg.2013.03.005