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 under-development 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.
Kosztolányi
G
G
Department of Pediatrics, University Medical School, Pécs, Hungary.
Weisenbach
J
J
Méhes
K
K
D000015:Abnormalities, Multiple / Q000235:genetics*; D007446:Chromosome Inversion; D002879:Chromosomes, Human, Pair 10; D004435:Eating; D005124:Eye Abnormalities / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008382:Marfan Syndrome / Q000235:genetics*; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome