|
skos:definition |
JABL: A multiple congenital anomaly/mental retardation syndrome marked by trigonocephaly due to craniosynostosis, orofacial anomalies (mainly metopic prominence, upward slating of the palpebral fissures, epicanthal folds, hypoplastic nose, malformed ears, and abnormal palate) associated with various renal, pulmonary, genital, and cardiovascular defects. Agenesis of the corpus callosum and tetralogy of Fallot in some cases. Opitz trigonocephaly and Varadi-Papp syndromes have many common characteristics.
|
