A patient with deletion of the long arm of chromosome 4 (4q-) may show a number of phenotypic changes.
The birthweight is usually normal.
Clinical findings:
(1) mental retardation
(2) satyr ears (superior aspects of ear pointed)
(3) cleft palate
(4) micrognathia
(5) retrognathia
(6) snub nose
(7) ocular hypertelorism
(8) cardiac anomalies
(9) upper airway obstruction and/or oropharyngeal hypotonia
(10) clinodactyly of the fifth fingers
(11) absent flexion crease on the fifth fingers
(12) simian crease
(13) anomalies of the toes (clinodacytly, displaced)
(14) sacral dimple
where:
• Clinodactyly indicates permanent lateral or medial deflection.
Death during infancy is common.
