Acro fronto facio nasal dysostosis. Richieri-Costa-Colletto syndrome.
Incidence
Only five cases, all of them Brazilian, were reported in the literature. Normal karyotype in all cases as well as similarly affected sister and brother strongly suggest an autosomal recessive transmission.
Clinical Characteristics
A syndrome of multiple abnormalities consisting of frontonasal dysostosis with a broad forehead and unusual facies, deformities of the hands and feet and oral structures, and retarded growth and mental development. Only five cases, all of them Brazilian, were reported in the literature. Association of facial and skeletal anomalies with severe mental retardation was observed. Cranio-facial anomalies are characterized by brachycephaly, prominent forehead with low frontal and occipital hairline, hypertelorism, broad notched nasal tip, cleft lip, highly-arched palate, small ears with prominent helix, hypoplasia of mid-face, and prognathism. Eye anomalies include bilateral ptosis, cataract and iris atrophy. Skeletal anomalies include broad thumbs and halluces, brachycamptodactyly of fingers 2 and 5, camptosyndactyly of toes 2 and 3, shortness of legs, equinovalgus feet. Other anomalies of the axial skeleton were described, including pectus excavatum and scoliosis. In one case, genito-urinary anomalies were associated.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
It is a clinical diagnosis.