Nager acrofacial dysostosis: minor familial manifestations supporting dominant inheritance

We report on a girl with Nager acrofacial dysostosis, three of whose relatives had variable mild anomalies of the thumb. The possible relationship of such minor features to the radial limb anomalies in the proposita provides further evidence that the Nager syndrome can be the manifestation of a dominantly inherited disorder with very variable expressivity.     

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.     

Syndrome of acrofacial dysostosis,cleft lip/palate,and triphalangeal thumb in a brazilian family

We describe two daughters of a nonconsanguineous couple. Both had facial and skeletal anomalies, but in quantitatively and qualitatively different ways. In one patient signs of mandibulofacial dysostosis are associated with anomalies of the radial rays of both arms. In the other, cleft lip and cleft palate are associated with hypoplastic thumbs. Clinical and genetical aspects of present case are discussed.     

Human facial dysostoses

The human facial dysostoses can be subdivided into mandibulofacial dysostoses (MFDs) and acrofacial dysostoses (AFDs). The craniofacial phenotypes of the two groups of patients are similar. Both types are thought to be related to abnormal migration of neural crest cells to the pharyngeal arches and the face. The craniofacial anomalies shared by the two groups consist of downslanting palpebral fissures, coloboma of the lower eyelid, from which the eyelashes medial to the defect may be absent, hypoplasia of the zygomatic complex, micrognathia, and microtia, which is often associated with hearing loss. These facial deformities are associated with limb anomalies in the AFDs. All MFDs present with the typical craniofacial phenotype, but some have additional features that help to distinguish them clinically: intellectual disability, microcephaly, chest deformity, ptosis, cleft lip/palate, macroblepharon, or blepharophimosis. The limb anomalies in the AFDs can be classified into pre‐axial, post‐axial, and others not fitting into the first two AFD types. Of the pre‐axial types, Nager syndrome and of the post‐axial types, Miller syndrome are the best‐known disorders of their AFD subgroups. Several other AFDs with unknown molecular genetic bases, including lethal ones, have been described. This article reviews the MFDs and AFDs published to date.     

Postaxial acrofacial dysostosis: Report on two patients

We report on 2 patients with the postaxial acrofacial dysostosis (AFD) syndrome. One patient was an isolated case; the other had an equally affected brother previously described [Richieri-Costa and Guion-Almeida, 1989]. Recurrence in sibs suggests autosomal recessive inheritance. © Wiley-Liss, Inc.     

Laryngeal malformations in the Richieri-Costa and pereira form of acrofacial dysostosis

We report on laryngeal malformations in 5 subjects, 4 females and 1 male, with the autosomal-recessive Richieri-Costa and Pereira form of acrofacial dysostosis. Characteristics of the voice are described. © 1996 Wiley-Liss, Inc.     

Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients

In this report we present two unrelated patients with the postaxial dysostosis syndrome (Miller syndrome) and document further the phenotypic variability of the craniofacial stigmata and of the postaxial (and preaxial) upper and lower limb reduction anomalies.     

Weyers acrodental dysostosis in a family

A four generation family with postaxial polydactyly of hands and feet and dental anomalies is reported. Lower and upper incisors were abnormal in shape and number. Additional findings were prominent ear anthelices, hypoplastic and dysplastic nails and mild shortness of stature. Inheritance was dominant with variable expression. It is proposed that the family presents the syndrome of acrofacial dysostosis described by Weyers in 1952. To differentiate it from other acrofacial dysostoses, we suggest naming the condition acrodental dysostosis.     

Mandibulofacial dysostosis: Report on two Brazilian families suggesting autosomal recessive inheritance

We report on mandibulofacial dysostosis in 2 brothers born to normal nonconsanguineous parents, and a girl (F = 1/16) born to normal consanguineous parents. Normal clinical, skeletal, audiologic, and cephalometric studies in the parents, as well as the absense of limp anomalies in these children, exclude the autosomal recessive (Nager and Genée-Widemann) mandibulofacial dysostoses. 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 dysotosis. © 1993 Wiley-Liss, Inc.     

Cranial base and face in mandibulofacial dysostosis

Using longitudinal roentgencephalometry, we studied craniofacial growth in two children with mandibulofacial dysostosis. In one child, data were supplemented by three-dimensional reconstructions of CT scans and stereolithographic models of the craniofacial skeleton. Progressive basilar kyphosis was found in both children, the hypothesized cause being bending of the cranial base at the level of the sphenofrontal suture. Such bending acting in concert with abnormal growth of the mandible led to impairment of the airway. We advocate careful monitoring of craniofacial growth and respiratory function in mandibulofacial dysostosis from birth through adolescence. © 1993 Wiley-Liss, Inc.     

Co-occurrence of schizophrenia and Treacher Collins syndrome

This is the first report of an individual with several congenital abnormalities, including those suggestive of Treacher Collins syndrome, and an atypical schizophrenic illness. Cytogenetic studies have failed to detect any recognizable chromosomal abnormality. © 1993 Wiley-Liss, Inc.     

Mild mandibulofacial dysostosis in a child with a deletion of 3p

We report on a patient with mild mandibulofacial dysostosis and a small interstitial deletion of 3p,46,XY,del(3)(p23p24.12). Linkage of Treacher Collins syndrome, the most common of the mandibulofacial dysostosis, to the 5q31.3→q33.3 region of chromosome 5 has been established. This is the fourth report of a patient with mandibulofacial dysostosis with a chromosome abnormality outside the 5q31.3 area. Mandibulofacial dysostosis is a heterogeneous entity, and evaluation and counseling of affected individuals should be undertaken with caution. © 1993 Wiley-Liss, Inc.     

Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: Prenatal and postnatal late replication studies

We report on an infant with preaxial acrofacial dysostosis (Nager syndrome) who was diagnosed prenatally as having an apparently balanced X/autosome translocation [46,X,t(X;9)(p22.1;q32)mat] inherited from a previously diagnosed mosaic translocation carrier mother [46,XX/46,X,t(X;9)(p22.1;q32)]. Replication studies on amniocytes showed the normal X chromosome to be late replicating while the same studies repeated on the infant's lymphocytes showed the translocated X chromosome to be late replicating in most cells. Late replication studies of the mother's lymphocytes demonstrated that the normal X chromosome was late replicating in most cells. The presence of Nager syndrome in this infant may be the result of critical break-points and/or position effects on chromosome 9, inducing expression of a gene responsible for the syndrome. © 1993 Wiley-Liss, Inc.     

Anatomical abnormalities in mandibulofacial dysostosis

A detailed dissection of the head and neck of a 7-month-old boy with mandibulofacial dysostosis is described and compared with other reported cases. A general growth retardation was found in the bones of the basicranium and calvaria as well as the face. The base of the skull was kyphotic, and the elements derived from the branchial arches articulated with the basicranium more anteriorly than usual. Certain middle ear structures were found to be extracranial. The facial muscles were generally normal except for the absence of elevators of the upper lip. The laryngeal cartilages were shortened anteroposteriorly, resulting in drastic reduction of the rima glottidis. The attachments of the masticatory muscles to the mandible suggested that the area of the temporomandibular joint had not completed normal differentiation, and that that part of the mandible which functioned as a condyle was actually an ossification around Meckel's cartilage. There was no infraorbital foramen, and the infraorbital neurovascular bundle was distributed instead to the palate. Clinical and functional correlations of the various defects are considered. Theories of pathogenesis are discussed on the basis of these findings. It is argued that these observations could be accounted for by an altered intercellular matrix with separate effects on skeletal growth and neural crest cell migration.     

A nager acrofacial dysostosis syndrome patient with severe respiratory distress syndrome (RDS)

Summary Nager acrofacial dysostosis is characterized by radial defect and the facial manifestations like Treacher-Collins syndrome. There are few reports about this syndrome in Japan. We report a typical Japanese Nager syndrome patient. He was complicated with respiratory distress syndrome.