Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, And Atypical Clefting

Clinical Features

Guion-Almeida and Richieri-Costa (1999) reported 4 unrelated Brazilian patients with growth and mental retardation; structural anomalies of the central nervous system, mainly callosal agenesis; prominent forehead; facial asymmetry; clinical anophthalmia (microphthalmia); heminasal aplasia or hypoplasia; preauricular skin tags; structural anomalies of the external ears; and atypical clefting.

Guion-Almeida et al. (2004) reported 5 unrelated Brazilian patients with heminasal aplasia associated with diverse anomalies, including lateral proboscis and anomalies of the eye and first branchial arch. Three of the patients had unilateral clinical anophthalmia. The authors suggested that these patients might represent a newly recognized syndrome with heminasal aplasia and ocular anomalies, or they might represent a wider spectrum of the heminasal aplasia/atypical clefting syndrome.

Inheritance

One patient reported by Guion-Almeida and Richieri-Costa (1999) was born to a consanguineous couple, suggesting the possibility of autosomal recessive inheritance of this disorder.

Nomenclature

See 309800 for discussion of misuse of the term 'anophthalmia' in the medical literature.