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skos:definition |
JABL: A syndrome of craniofacial anomalies (macrocephaly, a prominent forehead and occiput, foramina parietalia, hypertelorism, downslanting palpebral fissures, depressed nasal bridge, narrow palate, and apparently low-set ears), and atrioventricular septal defect. One sister in the original report had Dandy-Walker malformation (absent or hypoplastic cerebellar vermis, hydrocephalus, and posterior fossa continuing with the fourth ventricle). Additional anomalies include colobomas, hypertelorism, hand abnormalities, and mental retardation.
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