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PubMed1996

[Diagnosis and logopedic rehabilitation in mandibulofacial dysostosis: a case report].

TCS is hereditary condition transmitted as an autosomal dominant with a high penetrance rate and variable expressivity. Over half the cases derives from new mutations. A pathological gene has been located on the chromosome 5, between locus 31 and 34 of the long arm. The clinical picture is dominated by mandible-facial impairment and by numerous associated deficits, among which a hearing deficit. Therapy requires plurispecialistic intervention, personalized according to each patients condition. The Authors report the case of a three-year-old girl with transmissive deafness and serious language retardation. The child successfully underwent logopedical therapy for three years. The Authors conclude affirming that very young patients with S. Treacher Collins-Franceschetti have a very good chance of being inserted into society furthermore improved by the absence lack of mental deficiency and by spontaneous improvement in physical appearance.

Child, Preschool↗
PubMed1988

Autosomal recessive inheritance of Nager acrofacial dysostosis.

Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe micrognathia, malar hypoplasia, and radial limb defects. Most cases are sporadic, but autosomal recessive inheritance has been suggested. A family is reported in which two sibs are affected by this syndrome, presenting further evidence for autosomal recessive inheritance. The recognition of this syndrome as a distinct entity has important implications. After the birth of a child with orofacial malformations suggestive of mandibulofacial dysostosis, an exact diagnosis is essential before genetic counselling can be offered.

Female↗
PubMed1978

[Orthodontic treatment in cases of mandibulo-facial dysostosis].

The author describes the clinical picture of mandibulofacial dysostosis and gives reasons for the necessity for early orthodontic treatment. Two examples are presented. The analysis of the case histories of a total of 10 patients with this syndrome showed that the responsiveness to functional orthodontic appliances is greatest in children with bilateral mandibulofacial dysostosis. The need for co-operation with other disciplines involved is pointed to.

Child↗
PubMed1986

A new autosomal dominant acrofacial dysostosis syndrome.

We report on a family in which a previously undescribed acrofacial dysostosis syndrome is segregating as an autosomal dominant trait. Craniofacial manifestations are those of mild mandibulofacial dysostosis and are quite constant among affected relatives. The acral abnormalities are quite variable, affecting predominantly the radial ray. Variability extends from thumb duplication in one patient to mild hypoplasia of the first metacarpal and first proximal phalanx in most affected individuals. Mandibulofacial dysostosis is a causally nonspecific malformation and as such represents an apparently monotopic developmental field defect. Its occurrence with acral anomalies in several conditions of different cause represents a polytopic developmental field defect.

Adult↗
PubMed1990

Acrofacial dysostosis with ambiguous genitalia.

We report on a 46,XY infant with mandibulofacial dysostosis, preaxial and postaxial limb anomalies, urethral stenosis with left hydronephrosis, and ambiguous genitalia with phallic/scrotal transposition. This infant with atypical pre/postaxial acrofacial dysostosis (AFD) is the first to be reported with ambiguous genitalia. The acrofacial dysostoses are a heterogenous group of disorders characterized by varying degrees of mandibulofacial dysostosis with acral limb defects and may represent a polytopic field defect. These disorders have generally been separated on the basis of their limb anomalies into preaxial, postaxial, lethal, and atypical types. Most cases are sporadic, but various causes have been postulated including autosomal dominant and recessive inheritance, a chromosome 2q duplication, and a possible case of diabetic embryopathy. We review the nonfacial/limb anomalies in other cases of AFD and compare them to those of our case, thereby expanding the spectrum of anomalies in these disorders.

Abnormalities, Multiple↗
PubMed1996

Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: complex defect of blastogenesis?

Nager acrofacial dysostosis (NAFD) combines the facial anomalies of mandibulofacial dysostosis (Treacher-Collins-Francescetti) with hypoplastic/aplastic or triphangeal thumbs. The MURCS association consists of Müllerian duct aplasia, renal aplasia, cervicothoracic somite dysostosis with Klippel-Feil anomaly, and often defects of the facio-auriculo-vertebral (Goldenhar) spectrum. We describe a child with NAFD, MURCS anomaly (Klippel-Feil anomaly, vertebral synostoses, left renal agenesis), and left pulmonary agenesis. Our proband appears to express a unique anomaly of blastogenesis, simultaneously affecting the acrorenal, the mandibulofacial, and the cervicothoracic developmental fields, combining clinical manifestations of the MURCS, NAFD, VACTERL, and pulmonary agenesis associations. All anomalies may be traced back to abnormal blastogenesis, occurring during the third or the fourth week of embryonic development, and show that NAFD is a polytopic developmental field defect.

Abnormalities, Multiple↗
PubMed1991

Postaxial acrofacial dysostosis (Miller) syndrome: a new case.

We describe a new case of postaxial acrofacial dysostosis (Miller) syndrome. This syndrome consists of mandibulofacial dysostosis, similar to that seen in Treacher Collins syndrome, and postaxial limb deficiency. The mode of inheritance remains uncertain.

Abnormalities, Multiple↗
PubMed1983

Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case.

Acrofacial dysostosis is noted in a stillborn female with mandibulofacial abnormality without cleft palate and with bilateral radial hemimelia, duplication of the left great toe, and aplasia of the right kidney. Synopsis of the published cases shows that the various degrees of mandibulofacial dysostosis frequently characterized by cleft palate and atresia of the auditory meatus are not closely correlated with the malformation of the upper limb. Formal genetics are unknown.

Cleft Palate↗
PubMed1990

Nager's acrofacial dysostosis. Case report and review of the literature.

Nager's acrofacial dysostosis is a rare congenital anomaly in which mandibulofacial dysostosis is seen in combination with limb deformities, particularly hypoplasia of the radial aspect of the hand. A boy with a severe manifestation of this syndrome is presented. Deformities include severe bilateral mandibular hypoplasia with trismus, malar hypoplasia, downward sloping palpebral fissures, high-arched hard palate, absent soft palate, external auditory and middle ear abnormalities and bilateral hand deformities. The diagnosis and treatment difficulties in this patient are discussed in light of those reported in the literature. An interdisciplinary team approach to the management of patients with Nager syndrome is emphasized.

Fingers↗
PubMed2005

Acrofacial dysostosis type Rodríguez.

The acrofacial dysostoses (AFD) are a clinically and causally heterogeneous group of conditions characterized by mandibulofacial dysostosis and a variety of limb anomalies. Several abnormalities affecting different internal organs and the central nervous system (CNS) have been described. Depending on the type of limb defects, two major groups have been delineated: (1) with predominantly pre-axial anomalies, Nager type AFD, and (2) with predominantly post-axial involvement, Genee-Wiedemann form of AFD, also known as POADS, respectively. Other forms of "true AFD" have been described as Kelly, Reynolds, Arens (also Tel Aviv form), Rodríguez (or Madrid form), Richieri-Costa, and Patterson-Stevenson-Fontaine types. However, whether they are distinct entities or represent variants of the same condition remains unclear. Rodríguez AFD was described as a new lethal form of AFD in three affected sibs with severe mandibular hypoplasia, severe predominantly pre-axial limb deficiencies, absent fibulae and ribs, and internal organ anomalies, the most remarkable of which are arrhinencephaly and abnormal lung lobulation. We present a newborn girl with Rodríguez type of AFD, who died a few days after the birth due to respiratory failure. The phenotype and the cause of this condition are discussed.

Abnormalities, Multiple↗
PubMed1977

Nager acrofacial dysostosis: early intervention and long-term planning.

Nager acrofacial dysostosis is an extremely rare syndrome combining craniofacial features similar to Treacher Collins mandibulofacial dysostosis with the additional features of thumb and radial bone hypoplasia. The clinical and prognostic aspects of two unrelated infants with Nager acrofacila dysostosis are presented. A vigorous early intervention program of habilitation is described with emphasis on the facilitation of speech and language development in children with multiple morphological and developmental problems.

Female↗