Acrofacial dysostosis of unknown type: Nosology of the acrofacial dysostoses

Abstract

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.

Deletion of 1q in a patient with acrofacial dysostosis

“…The right hand is unusual as there is a biphalangeal first digit and three triphalangeal digits most consistent with either aplasia of the fifth ray, or similar to the left hand, aplasia of the thumb with a hypoplastic second digit. A case of preand postaxial involvement was described by Preis et al [1995], but our case is different as there is bilateral radial agenesis representing a predominantly preaxial anomaly. Although cardiac defects are seen with various forms of AFD, congenital heart defects in Nager syndrome are uncommon [Thompson et al, 1985].…”

Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez

“…The acrofacial dysostosis (AFD) syndromes are an etiologically heterogeneous group of disorders with an ill‐defined classification and inheritance. Traditionally, the AFD syndromes have been subdivided into the predominantly preaxial form (Nager syndrome) and the predominantly postaxial form (Genée‐Wiedemann or Miller syndrome, also referred to as POADS) [Opitz, 1987; Opitz et al, 1993; Preis et al, 1995]. However, many other forms of AFD have been described although it is unclear whether or not all these different AFD anomalies represent distinct syndromes [Opitz et al, 1993].…”

Another “new” form, the Palagonia type of acrofacial dysostosis in Sicilian family

“…The recently delineated Catania form of acrofacial dysostosis [Opitz et al, 1993] was confirmed as nosologic entity by Wulfsberg et al [1996]. Other forms of acrofacial dysostosis (AFD) were delineated by Medeira and Donnai [1994], Christianson et al [1994] and Preis et al [1995]; these appear to be lethal entities. However, recently, we were privileged to study a family with a previously apparently undescribed non-lethal form of acrofacial dysostosis originating, probably by coincidence, in the same village as the family with the original Catania form of acrofacial dysostosis.…”