New acrofacial dysostosis syndrome in 3 sibs

Abstract

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.

Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?

“…The same facial features are also seen in different types of acrofacial dysostosis (Opitz et al, 1993. Our patient, however, neither had the limb abnormalities nor the skeletal abnormalities seen in these conditions (Rodriguez et al, 1990;Petit et al, 1992;Stromme et al, 1993;Wilkie and Goodacre, 1997;Delb et al, 2001;Dimitrov et al, 2005), and none of these conditions have duodenal atresia and biliary atresia.…”

Prenatal phenotype of Nager syndrome and Rodriguez syndrome

“…This extremely rare AFD is characterized by Nager-like facial dysmorphisms, preaxial and postaxial limb defects (preaxial being predominant), absent or hypoplastic long bones of the upper limbs, and internal organ abnormalities. Unlike most AFDs, the inheritance of RS is considered autosomal recessive (Rodriguez et al, 1990). Whether NS and RS are distinct entities or represent variants of the same condition remains unclear (Wessels et al, 2002).…”

A variant or a “new” postaxial acrofacial dysostosis syndrome

“…Mental retardation is usually present [1-8, 10-15, 17-21]. Other authors favour the concept of heterogeneity and regard postaxial acrofacial dysostosis as a general term for autonomous disorders which are characterised by facial abnormalities and fifth ray digit absence/hypoplasia/dysplasia [1,2,13,18,20,21].…”