Acrofacial dysostoses

Abstract

A female baby was born with phocomelia, bilateral cleft lip and palate, marked micrognathia, malar hypoplasia, absence of lower eyelids, and absence of external ears. Radiological examination showed hypoplastic pectoral and pelvic girdles, short humeri and femora, with absence of forearms and legs, and oligodactyly of upper limbs. Her mother has triphalangism of the left thumb and a hypoplastic right thumb with stiff metacarpophalangeal joint. She also has downward-slanting palpebral fissures, malar hypoplasia, and deepset eyes. This observation offers an opportunity to revisit the acrofacial dysostoses syndromes, including Nager-Reynier syndrome, Genée-Wiedeman syndrome, and lethal forms.

Facial dysostoses: Etiology, pathogenesis and management

“…Furthermore, hypoplasia or agenesis of the thumbs, or triphalangeal thumbs have been observed as part of the condition. Phocomelia of the upper limbs and occasionally lower-limb defects have also been reported [Le Merrer et al, 1989]. The presentation of anterior forelimb anomalies as opposed to posterior forelimb anomalies and the general lack of hindlimb malformations distinguishes Nager syndrome from Miller syndrome, another rare acrofacial disorder.…”

Nager acrofacial dysostosis: Male‐to‐male transmission in 2 families

“…More severely affected cases have been described under the same eponym [Pfeiffer and Stoess, 1983;Kawira et al, 1984;Krauss et al, 1985;Hecht et al, 1987;Goldstein and Mirkin, 1988;Hall, 1989;Le Merrer et al, 1989;Palomeque et al, 19901 and the possible causal heterogeneity implied by this phenotypic variability has been pointed out by several authors [Carey et al, 1978;Weinbaum et al, 1981;Halal et al, 1983;Goldstein and Mirkin, 1988;Hall, 19891. Support for classifying all of these cases as Nager acrofacial dysostosis comes from observations that rather great intra-familial variability may occur [Le Merrer et al, 1989;Hall, 1989;Kim et al, 19891. Causal heterogeneity is suggested by families that are consistent with both dominant and recessive patterns of inheritance. The observation of affected monozygotic twins [Byrd et al, 19881 is consistent with causation by a single mutant gene and either dominant or recessive expression.…”

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].…”