Faciocardiomelic Syndrome

Clinical Features

Garcia-Ortiz et al. (2007) reported a sister and 2 brothers who had neonatal macrosomia, mental retardation, microcephaly, distinctive facial features, large neck, narrow shoulders, prominent trapezoid muscles, polydactyly type A in all extremities, and congenital heart disease consisting of single atrium. Their facial features involved flat nasal bridge, exotropia, palpebral ptosis, short eyelashes, telecanthus, anteverted nostrils, broad nasal fossae, long philtrum, macrostomia, prominent maxilla, dental malocclusion, and micrognathia. Radiologic findings included cuboid-shaped vertebral bodies, hypoplastic pelvis, slender long bones with thin cortices, molding disturbance of metacarpal bones, proximal megaepiphyses of metatarsal bones, hypertrophy of first ray, osteopenia, and delayed and dysharmonic bone age. The unaffected parents were not known to be consanguineous but were born in small villages from the same geographic area. Four other sibs, 1 sister and 3 brothers, were reported to be healthy, without polydactyly or heart defects, and did not resemble the affected sibs facially.