Corpus ID: 26852083

A new type of maxillofacial dysostosis, inherited as an X-linked or autosomal recessive trait.

  title={A new type of maxillofacial dysostosis, inherited as an X-linked or autosomal recessive trait.},
  author={R. Ensink and H. Brunner and C. Cremers},
  journal={Genetic counseling},
  volume={8 4},
Two brothers with congenital conductive hearing loss and phenotypic characteristics of maxillofacial dysostosis are described. In the oldest boy a malformed ossicular chain was present and the conductive hearing loss was improved by a malleo-vestibulo-pexy, with post-operative hearing gain of approximately 30 dB. Although superficially similar to Treacher Collins syndrome, the facial characteristics are more typical of maxillofacial than of mandibulofacial dysostosis. These cases most likely… Expand
Miller Syndrome: About A Case
Oto-mandibular dysplasias are malformations involving hypoplasia or *Corresponding author agenesis of the ear and mandibular hypoplasia. On the genetic level, it is a group of Jawad LAHMA veryExpand
Human facial dysostoses
The craniofacial anomalies shared by the two groups of patients consist of downslanting palpebral fissures, coloboma of the lower eyelid, and hypoplasia of the zygomatic complex, micrognathia, and microtia, which is often associated with hearing loss. Expand
Congenital Ossicular Chain Anomalies Associated with a Mobile Stapes Footplate: Surgical Results for 23 Ears
The audiometric results following surgery in a consecutive series of patients with a congenital ossicular middle ear disorder that was associated with a mobile stapes footplate provided positive audiometric outcomes. Expand
Congenital minor ear anomalies. Outcomes of surgery and some syndromal aspects
Surgery for isolated congenital stapes footplate ankylosis provides satisfactory audiometric outcomes, and preoperative assessment is mandatory to search for syndromal diagnoses. Expand
Dysplasies oto-mandibulaires : génétique et nomenclature des formes syndromiques
Resume Les dysplasies oto-mandibulaires sont des malformations associant hypoplasie ou agenesie de l'oreille et hypoplasie mandibulaire. Pour le chirurgien maxillofacial, c'est l'atteinte de la faceExpand


Maxillofacial dysostosis.
Four individuals in a single family affected with maxillofacial dysostosis are reported, which is transmitted as an autosomal dominant. Expand
Mandibulofacial dysostosis: report on two Brazilian families suggesting autosomal recessive inheritance.
The data of the present patients associated with the few additional reports on mandibulofacial dysostosis recurring in sibs, suggest the possibility of an autosomal recessive Treacher Collins-like mandibULofacial Dysostosis. Expand
X-linked syndrome of branchial arch and other defects.
It is suggested that two brothers and their maternal first cousin have an X-linked syndrome of which branchial arch defects are a component and other pleiotropic manifestations of the mutant gene include microcephaly and cryptorchidism; body asymmetry and relatively short stature may be components as well. Expand
Mandibulofacial dysostosis in Hutterite sibs: a possible recessive trait.
Examination of the literature on MFD disclosed a number of other families with affected sibs and apparently normal parents that raise the possibility of an autosomal recessive form of MFD or some other explanation such as germinal mosaicism, chromosome rearrangement, or delayed mutation. Expand
Ear Surgery in Treacher Collins Syndrome
Thorough analysis of 33 cases and the strict application of a classification for the anomaly to each ear enabled us to gain insight into the most suitable surgical policy and to form a prognosis for reconstructive ear surgery. Expand
Syndrome of microcephaly, deafness/ malformed ears, mental retardation and peculiar facies in a mother and son
We report a mother and son who have a microcephaly with a characteristic dysmorphic face. Prominent manifestations include facial asymmetry, prominent glabella, deafness, low‐set, cup‐shaped ears,Expand
Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients.
The phenotypic characteristics of a single craniofacial clinic population of 294 individuals affected with oculoauriculovertebral dysplasia (OAV) and variants are described, which is the largest population so described in the literature. Expand
The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees.
This is the first time nonpenetrance of TCS has been demonstrated convincingly and identification of the gene responsible for TCS is expected to be very useful in clinical practice. Expand
Berry-treacher collins syndrome: A review of 200 cases
Berry, Treacher Collins, or Franceschetti-Zwahlen-Klein syndromes, are all representative of varying degrees of severity of a more comprehensive hereditary syndrome given the term "mandibulo-facial dysostosis", which seems to be genetically transmitted primarily and three times more consistently by the female of the affected line. Expand
Ossicular reconstruction in cases of absent or inadequate incus, congenital malformation of the middle ear and epitympanic fixation of the incus and malleus.
  • R. Tange
  • Medicine
  • ORL; journal for oto-rhino-laryngology and its related specialties
  • 1996
The Teflon malleus attachment piston can be useful to reconstruct the sound-conducting mechanism of the middle ear in those ears in which the incus and the stapes suprastructure are either absent or inadequate as after prior otitis media or tympanoplasty. Expand