SYNDROME OF ARACHNODACTYLY, DISTURBANCE OF CRANIAL OSSIFICATION, PROTRUDING EYES, FEEDING DIFFICULTIES, AND MENTAL-RETARDATION

We have evaluated an infant with a striking combination of craniofacial anomalies, arachnodactyly, and severe developmental failure. She died at the age of 5 months during a recurrent apneic episode. She also had protruding eyes, downward slant of palpebral fissures, short upturned nose, midface hypoplasia, micrognathia, extreme underdevelopment of the epiglottis, and severe feeding difficulties. The patient closely resembled four other previously reported patients, It is suggested that these five patients represent the same malformation syndrome, a well-recognizable separate entity. Our patient also had a pericentric inversion of chromosome 10; a possible association of this with the phenotype cannot be excluded. (C) 1995 Wiley-Liss, Inc.