Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome)
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منابع مشابه
Craniodentofacial Manifestations in a Rare Syndrome: Orofaciodigital Type IV (Mohr-Majewski Syndrome)
Background. The orofaciodigital syndromes (OFDS) are a heterogeneous group of syndromes that affect the face, oral cavity, and the digits. OFDS type IV (OMIM %258860) is rare and characterized by broad nasal root and tip, orbital hypertelorism or telecanthus, micrognathia, hypoplastic mandible, and low-set ears. Oral symptoms may include cleft lip, cleft or highly arched palate, bifid uvula, cl...
متن کاملOrofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies.
We present a male infant with hypertelorism, median pseudo-cleft of the upper lip and cleft palate, lobulated tongue, hypoplastic larynx and epiglottis, mesomelic shortening of limbs with particularly short and broad tibiae, polydactyly of the upper limbs, severely hypoplastic external genitalia with anorchidism, anal atresia, severe congenital heart defect, and renal agenesis. These features s...
متن کاملA male with type I orofaciodigital syndrome.
We describe a three generation family with three females showing minor features of orofaciodigital syndrome type I and a severely affected male in the third generation. In addition to the classical features of OFD I, the male had bilateral duplication of the halluces, a feature diagnostic of OFD II, and an atrioventricular septal defect. Heart defects have not previously been reported in OFD I ...
متن کاملOrofaciodigital syndrome type III in two sibs.
A brother and sister with mental retardation, malformations of the cerebellar vermis, characteristic 'metronome' eye movements, lingual hamartomas, and postaxial polydactyly are described. The clinical overlap with the OFD group of syndromes, in particular OFD III and OFD VI, and Joubert's syndrome is discussed. If OFD III syndrome is to be recognised as a distinct entity, these two cases repre...
متن کاملParental consanguinity and the Majewski syndrome.
We report a female infant with the Majewski syndrome, one of a group of conditions characterised by short ribs, polydactyly, dwarfism, and early neonatal death. This syndrome seems to be extremely rare, with only five well documented cases reported and, including this case, nine recorded in all. The Majewski syndrome is considered to be recessively inherited, and this report adds further suppor...
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ژورنال
عنوان ژورنال: Case Reports in Dentistry
سال: 2014
ISSN: 2090-6447,2090-6455
DOI: 10.1155/2014/605892