Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus.
We describe an infant with clinically apparent oto-palatal-digital syndrome Type II (OPD II), who, in addition, also has hydrocephalus and cerebellar hypoplasia. This second X-linked disorder has not been reported previously to occur in association with OPD II. This patient had 2 maternal uncles who died neonatally with congenital hydrocephalus and digital abnormalities consistent with OPD II. We suggest that these 2 entities may be located near one another on the X chromosome, and that both loci are affected in this family.
Stratton
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RF
South Texas Genetics Center, San Antonio 78229.
Bluestone
D L
DL
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities*; D002972:Cleft Palate / Q000235:genetics*; D003103:Coloboma / Q000235:genetics; D034381:Hearing Loss / Q000235:genetics*; D006312:Hearing Loss, Bilateral / Q000151:congenital / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities; D017880:Limb Deformities, Congenital; D008297:Male; D012160:Retina / Q000002:abnormalities; D013577:Syndrome; D014960:X Chromosome