β Scribed by Warburg, M.; Jensen, H.; Prause, J. U.; Bolund, S.; Skovby, F.; Miranda, M. J.
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We describe a patient with bilateral extreme microphthalmia with bilateral congenital glaucoma, bilateral medial oblique facial cleft ending in lid colobomas, bilateral stenosis of the choanae, bifid uvula, frontal encephalocele, and premature craniosynostosis. The cause is unknown, but the phenotype resembles the Fryns anophthalmiaplus syndrome, which may be a recessive trait, although intrauterine environmental factors cannot be excluded.
π SIMILAR VOLUMES
Major characteristics of the acrocallosal syndrome include severe mental retardation, agenesis or hypoplasia of the corpus callosum, and polydactyly of fingers and toes. In the past few years, anencephaly has also been noted, together with other midline defects. We report on a nonconsanguineous, Nor
We report on the occurence of microcornea, coloboma, and macrophthalmia in 4 generations of an Italian family. The patients had no additional physical anomalies, were of normal intelligence, and had a normal karyotype. This condition has been reported in only 1 family [Bateman and
Trisomy 22 was detected in a 32-week-old fetus born to an overweight mother with hypertension. Severe intrauterine growth retardation was associated with phenotypic manifestations of Fryns syndrome: diaphragmatic hernia, facial defects, and nail hypoplasia with short distal fifth phalanges. This is
We present two sisters with microcephaly, developmental delay, marked microphthalmia, congenital cataracts, cerebral and cerebellar hypoplasia, and intracranial calcification. No evidence of intrauterine infection was found. There have been previous reports of microcephaly, intracranial calcificatio
When Amanda travels east to Orlando on a hunch, she's met with the worst news possible. Kingdom Keeper Finn Whitman is missing. Calling on her own gift (she's telekinetic), her sister Jess's ability to dream the future, and their fellow Fairlie Mattie Weaver's unexplained ability to read minds throu