Oro-facial-digital syndrome type II (Mohr-Claussen syndrome) SWISS SOCIETY OF NEONATOLOGY
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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...
متن کاملDistinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II)
We describe a constellation of distinctive skeletal abnormalities in an 8-year-old boy who presented with the full clinical criteria of oro-facial-digital (OFD) type II (Mohr syndrome): bony changes of obtuse mandibular angle, bimanual hexadactyly and unilateral synostosis of the metacarpo-phalanges of 3-4, bilateral coxa valga associated with moderate hip subluxation, over-tubulation of the lo...
متن کاملOro-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...
متن کاملمعرفی دختر مبتلا به سندرم استورج وبر همراه با بدشکلی استخوانی در ناحیه دهان- فک بالا- صورت
Background: Sturge-Weber syndrome is one of the rare neurocutaneous disorders with frequency of approximately 1 per 50,000. Sturge-Weber syndrome consists of a constellation of symptoms and signs including a facial nevus (port wine stain), seizure and hemiparesis. In many cases it may associate with mental retardation. Case presentation: A 7- year old girl with mental retardation and a large fa...
متن کاملDiagnostic and clinical procedures of a patient with oral-facial-digital type II syndrome: a case report
The oral-facial-digital syndromes (OFD) are part of a great number of genetic disorders. They are classified in categories based on characteristic abnormalities, including OFD type I (Papillon-Leage and Psaume syndrome) and OFD type II (Mohr syndrome). The aim of this article is to describe a clinical case of a patient with oralfacial-digital type II syndrome or Mohr syndrome, who underwent sur...
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تاریخ انتشار 2014