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PubMed2001

[Facial paralysis in oto-mandibular dysplasia. Clinical study and therapeutic implications].

The percentage of facial palsy in the otomandibular dysostosis is great. It varies from 12 to 50% in the literature. The OMENS classification embodies the muscular and facial nerve defects, and appears to represent the most inclusive classification. Few literature reviews have proposed a treatment of the facial palsy in the otomandibularis dysostosis. The authors proposed a treatment protocol depending on the patient's age. The patients before one year of age are treated with the Iñigo's technique, which provide reinnervation to the affected muscles through a crossed facial nerve graft. After one-year old, the surgical approach is realised at five to seven years old to permit a physical therapy. The upper lip is reanimated by the lengthening temporalis myoplasty or by free muscle transplantation with nerve graft. The orbital area treatment of the paralyzed side can included a lengthening of the upper eyelid levator muscle, an asymmetric lateral tarsorraphy and a chondromucous graft.

Ear, External↗
PubMed2002

Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez.

The group of acrofacial dysostosis (AFD) syndromes is very heterogeneous and contains many different entities. In 1990, Rodriguez et al. [1990: Am J Med Genet 35:484-489] described a new type of AFD characterized by severe mandibular hypoplasia, phocomelia and oligodactyly of the upper limbs, absence of fibulae, microtia, cleft palate, internal organ anomalies including arrhinencephaly and abnormal lung lobulation, and early lethality. We describe another case of AFD type Rodriguez, identified by prenatal ultrasonography at 25 weeks of gestation.

Abnormalities, Multiple↗
PubMed1987

Nager syndrome: an update of speech and hearing characteristics.

Nager acrofacial dysostosis is a rare syndrome of unknown etiology combining mandibular and thumb/radial hypoplasia. Seven patients evaluated in this study had histories of early respiratory and feeding problems, micrognathia and absent velum, atretic ear canals and conductive hearing loss, upper and lower limb malformations, normal intelligence, and speech/language delays and disorders. These findings, with few exceptions, were consistent with the findings in previously published and unpublished case histories of patients with Nager syndrome. Recommended rehabilitative strategies include prespeech feeding activities (especially if gastrostomy tubes are present), oral language stimulation, individualized speech/language therapy, and early audiologic evaluation and amplification.

Abnormalities, Multiple↗
PubMed1975

[Threedimensional cephalometric contribution to the study of mandibulo-facial dysplasias].

The cephalometric particulars of the dysplastic syndrome of the first visceral segment, the dysostosis mandibulofacialis Franceschetti-Zwahlen were investigated. Ten patients were found with the identical symptom of a typical, uni- or bilateral microtia of the external ear. The cephalometric characteristics of the syndrome may be summarized as follows: - retroposition of the middle face - retroposition of maxilla and mandible - retrorotation of the mandible - reduction of vertical and lateral dimension of the face - reduction of transverse diameter of both dental arches - shortened mandibular base - both halves of the face are affected, but more so the half with microtia - the chin is deflected toward the affected side. Most of these symptoms must be attributed to disturbed organogenesis. With the rest of them, functional adaptation cannot be exluded.

Adolescent↗
PubMed1998

Mandibulo-facial dysostosis: comparison study of a neonate with mandibulo-facial dysostosis and a normal neonate.

Mandibulo-facial dysostosis (MFD) is a malformative syndrome with autosomal dominant transmission and variable expressivity that mainly affects derivatives of the first and second branchial arches. The subsurface anatomy of this condition is still partly unexplored since there have been only four reported dissections of MFD. A detailed dissection of the head and neck of a neonate with MFD is described and compared with a normal neonate. Theories of the pathogenesis are discussed on the basis of these observations.

Branchial Region↗
PubMed2002

Anaesthetic implications of Nager syndrome.

Nager acrofacial dysostosis is an oromandibular hypogenesis syndrome with associated limb abnormalities. Although it shares some phenotypic features with Treacher-Collins syndrome, it is recognized as a separate disorder. The physical features of Nager syndrome include down slanted palpebral fissures, malar hypoplasia, a high nasal bridge, atretic external auditory canals, cleft palate and micrognathia. Preaxial limb malformations include absent or hypoplastic thumbs, hypoplasia of the radius and shortened humeral bones. Of primary concern to the anaesthetist are the midface and mandibular manifestations which may complicate perioperative airway management. These problems may also manifest in the postoperative period with airway obstruction. Associated defects have included vertebral malformations with reports of cervical spine involvement, congenital cardiac defects and upper limb defects affecting the preaxial or radial side. We describe a 7-year-old boy with Nager syndrome who required anaesthetic care during placement of a syringopleural shunt for drainage of a spinal cord syrinx. The perioperative implications of this disorder are reviewed.

Anesthesia, General↗
PubMed1993

Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis.

The acrofacial dysostoses (AFDs) are a heterogeneous group of disorders combining defects of craniofacial and limb development. The predominantly preaxial form is called Nager AFD, the predominantly postaxial form of AFD (POADS) is also known as the Genée-Wiedemann or Miller syndrome. The former appears to be about twice as common as the latter with well-documented autosomal dominant and recessive occurrences in both conditions. Only 1 AD occurrence of POADS is known, but 5 sets of sibs are suggestive of AR inheritance. Heterogeneity of apparently nonsyndromal AFD of both types is powerful support for the hypothesis that the AFDs are polytopic field defects arising during blastogenesis. Six other previously described forms of AFD include the AFD syndrome of Kelly et al. (AR), the Rodríguez or Madrid form of AFD (AR or XLR), the Reynolds or Idaho form of AFD (AD), the Arens or Tel Aviv type of AFD (AF?), the presumed AR AFD syndrome of Richieri-Costa et al., and the AD Patterson-Stevenson-Fontaine syndrome. Here we review the AFDs and report on a previously apparently undescribed autosomal or X-linked dominant form of AFD with mental retardation in a Sicilian mother and her 4 sons.

Adolescent↗
PubMed2004

[Malar reconstruction in the patients with Treacher-Collin's syndrome].

OBJECTIVE: The key feature of Treacher-Collin's syndrome is malar dysostosis. The article focused on malar reconstruction for Treacher-Collin's syndrome and compared the implant materials. METHODS: From 1994 to 2002, a total of 55 patients with Treacher-Collin's syndrome were treated with malar reconstruction. In the operation, the lateral orbital rim and the mala were exposed by the bicoronal incision or the subciliary incision. The mala was augmented and reconstructed with implants of different materials, including autologous bone (rib, ilia or cranium). Medpor biomaterial or bone cement. RESULTS: The operations of the 55 patients were all successful without infection. The satisfactory rate in facial contour was 90%. Implant exclusion occurred in 2 cases using hone cement. CONCLUSION: Malar reconstruction is the most important treatment for Treacher-Collin's syndrome. Every implant material has advantages and shortcomings. Autologous hone is the best material for malar reconstruction. Medpor is the best artificial material, with good histocompatibility, without exclusion, absorption and donor injury.

Adolescent↗
PubMed1976

Goldenhar syndrome. Associated with submandibular gland hyperplasia and hemihypoplasia of the mobile tongue.

We report of a case of Goldenhar syndrome with submandibular gland hyperplasia and hemihypoplasia of the mobile tongue. This association has not been noted in the literature. A vascular abnormality or hemorrhagic phenomenon occurring during embryogenesis have been proposed as an explanation for the spectrum of defects seen in this syndrome. Congenitae hearing loss, when it occurs in Goldenhar syndrome, is usually unilateral and conductive in nature; however, inner ear defects may be more common than previously recognized.

Abnormalities, Multiple↗
PubMed1978

Deafness in Osteodysplasty of Melnick and Needles.

A 12-year-old boy had osteodysplasty of Melnick and Needles and a mixed conductive and perceptive deafness of both ears. Deafness in this rare, inherited skeletal disorder is exceptional. Structurally, the pinnae and external auditory canals were small; thin, serous fluid was found in both middle ears, and on surgical exploration of the right ear, no round window could be found.

Bone and Bones↗
PubMed1979

Pharyngeal hypoplasia in Treacher Collins syndrome.

Examination of 11 patients with Treacher Collins syndrome (TCS), with the use of multiple-view videofluoroscopy and nasopharyngoscopy of the pharynx, disclosed marked narrowing of the airway. In several patients, the pharynx was less than 1 cm in width at its most narrow point. It is thought that reduced airway in TCS may help to explain the frequent reports of neonatal death associated with the syndrome. Pharyngeal narrowing was found throghout the entire vertical height of the pharynx in all 11 patients. Pharyngeal hypoplasia is probably responsible for reported difficulties in intubating patients with TCS for endotracheal anesthesia and for respiratory complications after palatoplasty and pharyngoplasty. Pharyngeal hypoplasia is considered to be a primary feature of the syndrome and may aid in its diagnosis.

Adolescent↗
PubMed1995

The Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees.

BACKGROUND: The Treacher Collins syndrome (TCS) is an autosomal dominant hereditary syndrome with variable penetrance and expression. The clinical characteristics are the result of dysmorphogenesis of the first and second embryonal branchial arch systems. The gene responsible has been located on the long arm of chromosome 5. Treacher Collins syndrome is rare, and in 60% of the patients the family history is negative. Consequently, only a few family studies are available. This renders it difficult to make a diagnosis and to comply with the increasing demand for genetic counseling. To gain insight into the diagnosis and variation in expression and penetrance of TCS, a clinical study was started followed by gene linkage research. METHODS: Audiological and physical tests were performed on 59 persons belonging to two families. In selected cases (n = 19), vestibular and radiological examinations were also conducted. Blood samples were taken from 55 persons for gene linkage studies. RESULTS: The diagnosis of TCS could be made in 13 persons after clinical examination. The radiological detection of zygomatic hypoplasia or aplasia played an important supportive role. In addition to the 13 persons with TCS mentioned above, gene linkage studies showed positive linkage to chromosome 5q32-33.2 in three persons with clinical nonpenetrance. CONCLUSIONS: This is the first time nonpenetrance of TCS has been demonstrated convincingly. In individual cases, clinical examination alone cannot always remove doubts about the diagnosis. Therefore, gene linkage studies will play a decisive role. Identification of the gene responsible for TCS is expected to be very useful in clinical practice.

Adult↗