Oculo-palato-cerebral syndrome

Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.

Small hand

Disproportionately small hand.


合計: 1

                       


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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.
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.