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The syndrome consists of severe [[micrognathia]], [[cleft lip]] and/or [[palate]], hypoplasia or aplasia of the postaxial elements of the limbs, [[coloboma]] of the [[eyelids]] and supernumerary [[nipple]]s. Additional features of the syndrome include
downward slanting palpebral fissures, malar hypoplasia, malformed [[ear]]s and a broad nasal ridge. Other features include supernumerary [[vertebra]]e and other vertebral segmentation and [[rib]] defects, [[heart]] defects ([[patent ductus arteriosus]], [[ventricular septal defect]], [[ossium primum]] and endocardial cushion defect), [[lung]] disease from chronic [[infection]], single umbilical [[artery]], absence of the hemi[[diaphragm]], hypoplasia of the femora, ossification defects of the ischium and pubis, bilobed tongue, and lung hypoplasia and [[seizure]]s. Mental retardation may be associated.
The differential diagnosis includes [[Treacher Collins syndrome]]
The incidence of this condition is not known but it is considered rare.
Nothing is presently known of the pathogensis.
==References==
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