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PubMed1995

Acrofacial dysostosis of unknown type: nosology of the acrofacial dysostoses.

We describe a stillborn girl with an unclassified form of mandibulofacial dysostosis, a postaxial defect of the right, and a preaxial defect of the left hand. The Nager syndrome is characterized by preaxial limb defects, whereas the Genée-Wiedemann syndrome (= Miller syndrome) by postaxial limb defects. We briefly review the established acrofacial dysostoses (AFD) and discuss the position of our case in the current classification.

Abnormalities, Multiple↗
PubMed1986

Acrofacial dysostosis of Nager and ocular abnormalities.

Acrofacial dysostosis of Nager is a little known hereditary syndrome in which the findings of mandibulofacial dysostosis are associated with defects of the limbs. The present case showed other abnormalities including the Stilling-Turk-Duane syndrome, conductive deafness and ptosis of the transverse colon.

Abnormalities, Multiple↗
PubMed1996

Confirmation of the Catania brachydactylous type of acrofacial dysostosis: report of a second family.

The acrofacial dysostoses (AFD) are a heterogeneous group of disorders combining varying severities of mandibulofacial dysostosis (MFD) with pre- and/or postaxial limb abnormalities. In 1993, Opitz et al. [Am J Med Genet 47:660-678] described a new AFD with mental retardation in a Sicilian mother and her four sons characterized by intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, MFD without cleft palate, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, and cryptorchidism and hypospadias in males. We report a mother and daughter with this same phenotype, confirming this new type of AFD and expanding the clinical phenotype to include frequent dental caries. Analysis of cephalometric and metacarpophalangeal profiles in this family showed no distinctive diagnostic abnormalities. This family confirms the Catania brachydactylous type of AFD and supports an autosomal dominant mode of inheritance, although male-to-male transmission has not been demonstrated.

Abnormalities, Multiple↗
PubMed1993

Nager acrofacial dysostosis and preaxial polydactyly: a further example with lethal outcome.

A sporadic malformed premature stillborn showing the typical craniofacial features of mandibulofacial dysostosis combined with unilateral extra thumb and visceral anomalies is described and classified as a preaxial acrofacial dysostosis of the Nager type (NAFD). Comparison with other rare similar cases reported in the literature is made and genetic heterogeneity discussed.

Abnormalities, Multiple↗
PubMed1986

A Bayesian method for the estimation of penetrance: application to mandibulofacial and frontonasal dysostoses.

We describe a Bayesian method of estimating penetrance from genealogical data. It consists of calculating the likelihood of the data alone to make inferences about penetrance without sample space considerations. The method is applied to mandibulofacial dysostosis giving a penetrance of 0.908 with 0.95 credible interval of [0.809; 0.972] and to frontonasal dysostosis giving a penetrance of 0.670 with 0.95 credible interval of [0.457; 0.851].

Craniofacial Dysostosis↗
PubMed2001

[Oto-mandibular dysplasias: genetics and nomenclature of syndromes].

Otomandibular dysplasia are characterised by a combination of anomalies of the ear and the mandible. From the surgical point of vue, facial dysostosis is prominent and focus the attention. For the geneticist it is a group of different entities, familial or sporadic. Familial history, detailed clinical examination looking for extra-facial associated malformations, characteristics of the facial dysostosis, unilaterality or bilaterality and biological or radiological findings allow sometimes to identify a known syndrome. A bilateral and symetric dysostosis with predominant zygomatic and malar hypoplasia suggest the diagnosis of Treacher-Collins or Franceschetti syndrome or mandibulofacial dysostosis, particularly in the presence of positive familial history. Acral anomalies associated with facial dysostosis allow the distinction between Treacher-Collins syndrome and acrofacial dysostosis (Nager and Miller syndromes). Unilateral and bilateral asymmetrical anomalies, namely facioauriculovertebral syndrome, hemifacial microsomia, otomandibular dysostosis, no. 7 cleft, first branchial arch syndrome, Goldenhar syndrome were lumping together by Gorlin in 1990, who proposed to use the term "oculoauriculovertebral spectrum". This classification is the first step before genetic studies, who need homogeneous group of patients. Lastly recurrence risk can be evaluated and genetic counselling can be done only if a precise genetic diagnosis is known.

Child↗
PubMed1997

Clinical appearance of spontaneous and induced first and second branchial arch syndromes.

The clinical appearance was investigated of 29 patients with mandibulofacial dysostosis, 26 with hemifacial microsomia, and seven with thalidomide-induced malformations affecting derivatives of the first and second branchial arches. Malformations of the external ear, ear canal, middle ear, zygoma, maxilla, mandible, and lower eye lid were prominent features of the syndromes. Facial nerve and 6th cranial nerve paralysis as well as anophthalmia or microphthalmia were seen only in patients with hemifacial microsomia and in the thalidomide-induced syndrome. We compared the clinical results with those in an animal model in which an induced first and second branchial arch syndrome depends on disturbed migration of neural crest cell during early embryogenesis. The critical time for a similar process in humans would be between the 20th and 29th days of pregnancy.

Adult↗
PubMed1981

Form, function, growth, and craniofacial surgery.

The introduction of craniofacial surgery in the early 1970's provided new treatment opportunities for patients previously ineligible for care and increased the number of patients presenting to multidisciplinary teams and private practitioners. Otolaryngologists together with other medical and paramedical professionals began to see patients whose overall phenotype was relatively unfamiliar. Complex craniofacial malformations raised questions concerned with the severity of the malformation process, the effect of growth, and the effect of surgery. For example, how does the anomalous craniofacial skeleton grow? Does the deformity become worse with time? Does it get better? Or does it stay the same? Additionally, how does surgery that is designed to restore form and function affect growth of the craniofacial complex? To answer these questions, this article examines the form, function, and pattern of craniofacial growth in four categories of malformations: cleft lip and palate, hemifacial microsomia, mandibulofacial dysostosis, and two of the craniofacial synostoses, the Apert and Crouzon syndromes. Each of these malformations is amenable to surgery. The timing and effect of surgery on growth are critical to successful habilitation and are discussed as part of the natural history of those anomalies.

Acrocephalosyndactylia↗
PubMed1990

New acrofacial dysostosis syndrome in 3 sibs.

We performed clinical and autopsy studies on 3 sibs with an acrofacial dysostosis (AFD) syndrome. All 3 died neonatally from respiratory complications derived from their severe mandibular hypoplasia. They presented a malformation syndrome characterized by mandibulofacial dysostosis, predominantly preaxial limb deficiencies, rare postaxial limb anomalies, shoulder/pelvis girdle hypoplasia, and cardiac and CNS malformations. This syndromal form of AFD could represent a distinct entity with autosomal-recessive inheritance. Its delineation from other AFD syndromes is discussed.

Diagnosis, Differential↗
PubMed2005

Otologic and audiologic features of Nager acrofacial dysostosis.

OBJECTIVE: To describe the otologic and audiologic characteristics of pediatric patients with Nager acrofacial dysostosis. DESIGN: Retrospective case series. SETTING: Multidisciplinary clinic in a tertiary care children's hospital. SUBJECTS: Patients less than 18 years of age with Nager acrofacial dysostosis. METHODS: Nager syndrome is a mandibulofacial dysostosis associated with preaxial limb abnormalities and multiple craniofacial anomalies. Ten patients with Nager syndrome were reviewed. Relevant literature, 1966 to the present, was reviewed with the assistance of Medline. RESULTS: External and middle ear abnormalities are common in Nager syndrome. All non-atretic ears had significant difficulty with otitis media, requiring an average of two sets of tympanostomy tubes. Cholesteatoma was diagnosed in one patient. Pure conductive hearing loss was identified in eight patients with mixed hearing loss noted in two patients. Conductive hearing loss greater than 30 dB HL was noted in 90% (9/10) of patients, with 40% (4/10) having 55-70 dB HL loss. Although amplification was effective, results of surgical interventions to correct conductive hearing loss were inconsistent. Two patients with mixed hearing loss developed the sensorineural component in later childhood, indicating that progressive or fluctuating sensorineural hearing loss is also possible in this population. CONCLUSIONS: Pediatric patients with Nager acrofacial dysostosis exhibit conductive hearing loss due to middle and external ear pathology. Prolonged ventilation of the middle ear via tympanostomy tubes and amplification with hearing aids are often required. Some patients also demonstrate mixed hearing loss that may be progressive and should be monitored carefully. Early and aggressive management in a multidisciplinary team approach is recommended.

Audiometry, Pure-Tone↗
PubMed1997

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

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

Abnormalities, Multiple↗
PubMed2003

The prolonged use of the laryngeal mask airway in a neonate with airway obstruction and Treacher Collins syndrome.

Upper airway obstruction and difficult tracheal intubation are often encountered in patients with Treacher Collins syndrome (mandibulofacial dysostosis). In this case report, the use of a laryngeal mask airway (LMATM) in a 10-day-old newborn with severe Treacher Collins syndrome and acute airway obstruction is described. It successfully relieved the airway obstruction and was left in situ for an exceptionally long period of 4 days. The difficult decisions with respect to the management of the airway and specifically the role of the laryngeal mask are described. In our opinion, in some newborns with severe mandibulofacial disorders and upper airway obstruction, where conservative airway management procedures have failed, the laryngeal mask can be considered not only to relieve the obstruction but also to buy time until there is full insight into the medical condition and its consequences.

Adult↗
PubMed1995

Prenatal sonographic diagnosis of Treacher Collins syndrome: a case and review of the literature.

We report the prenatal ultrasonographic diagnosis of a fetus with mandibulofacial dysostosis (Treacher Collins syndrome). Sonographic findings included: polyhydramnios, microcephaly, abnormal fetal facial features (slanting forehead, microphthalmos, micrognathia), and abnormal fetal swallowing. A review of the current literature pertaining to prenatal diagnosis of this condition is presented.

Adolescent↗
PubMed1994

Recurrence of Treacher Collins' syndrome with sonographic findings.

Treacher Collins' syndrome, or mandibulofacial dysostosis, is a rare, autosomal-dominant disorder. We describe the recurrence of this anomaly in the fetus of a patient who previously had delivered a severely affected infant. The ultrasonographic findings of hydramnios, absence of fetal swallowing movements, and poor growth of the biparietal diameter and head circumference permitted us to suggest the diagnosis antenatally of another affected child.

Adult↗
PubMedDate not supplied

[Anesthesia in a patient with Treacher-Collins syndrome].

Treacher Collins syndrome is a form of mandibulofacial dysostosis characterized by deafness, hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid and bilateral anomalies of auricle. The condition may be associated with other malformations (cardiovascular system). The major problem in anesthesia lies on the maintenance of a free airway and intubation. During postoperative period, pharyngeal and laryngeal edema may develop even after pharyngoplasty. Cases of sleep apnea, respiratory distress and even sudden death have been reported.

Adult↗
PubMed1988

Familial Treacher-Collins syndrome.

The major congenital malformations of the first and second branchial arch derivatives such as mandibulofacial dysostosis have a genetic basis. Treacher-Collins syndrome is transmitted as an autosomal dominant trait, although many cases occur as spontaneous mutations. The characteristics are hypoplasia of the malar, mandibular and maxillary bones, antimongoloid slanting of the palpebral fissures and a receding chin. The aural findings include malpositioning or maldevelopment of the pinna or external auditory meatus, an atretic bony plate instead of tympanic membrane, or ossicular malformations. Five members of a Hindu family affected by Treacher-Collins syndrome spanning three generations are examined in detail, with special reference to their hearing.

Humans↗
PubMed1977

The eye in the partial trisomy 2q syndrome.

Mandibulofacial dysostosis, mental retardation, skeletal, genital, and ocular malformations occurred in a family with partial trisomy of the long arm of chromosome 2. Translocations of chromatin material from the long arm of chromosome 2 to the short arm of chromosome 9 was balanced in the female carriers of the pedigree but was unbalanced among the males. Ocular signs in the males included uveal coloboma, anterior chamber angle anomalies as in Ringer's syndrome, congenital glaucoma with dislocated lens, exotropia, and blepharoconjunctivitis. These findings were related to an inherited malformation syndrome.

Adult↗