Persistent hyperplastic primary vitreous


Small hand

Disproportionately small hand.


合計: 2

                       


（表示件数）
PMID (PMCID)
11241490
 MALE Infant
Oculo-palatal-cerebral syndrome: a second case.
Pellegrino JE, Engel JM, Chavez D, Day-Salvatore D.
Am J Med Genet. 2001;99(3):200-3.
Our patient, a 2-year-old boy, had growth delay, microcephaly, bilateral persistent hyperplastic primary vitreous with right microphthalmia, long ears with thickened helices, small hands and feet, highly arched palate, joint hypermobility, hypoplastic nails, frontal cerebral atrophy and thinning of the corpus callosum on brain magnetic resonance imaging, and mild developmental delay.
11241490
 MALE Infant
Oculo-palatal-cerebral syndrome: a second case.
Pellegrino JE, Engel JM, Chavez D, Day-Salvatore D.
Am J Med Genet. 2001;99(3):200-3.
Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy.