Oto‐palatal‐digital syndrome type II with X‐linked cerebellar hypoplasia/hydrocephalus
- 1 November 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 41 (2), 169-172
- https://doi.org/10.1002/ajmg.1320410206
Abstract
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.Keywords
This publication has 16 references indexed in Scilit:
- Families with X‐linked hydrocephalusClinical Genetics, 1989
- Prenatal diagnosis of X linked hydrocephalus without aqueductal stenosis.Journal of Medical Genetics, 1987
- X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia.Journal of Medical Genetics, 1986
- Oto‐palato‐digital syndrome, type II—an X‐linked skeletal dysplasiaAmerican Journal of Medical Genetics, 1985
- The oto‐palato‐digital syndrome, proposed type IIAmerican Journal of Medical Genetics, 1983
- Prenantal diagnosis of X‐linked hydrocephalyPrenatal Diagnosis, 1983
- Abnormal facies, cleft palate, and generalized dysostosis: A lethal X-linked syndromeThe Journal of Pediatrics, 1981
- Aqueductal Stenosis in X‐Linked Hydrocephalus: a Secondary Phenomenon?Developmental Medicine and Child Neurology, 1979
- Congenital hydrocephalus and cerebellar agenesisClinical Genetics, 1978
- A familial syndrome of cranial, facial, oral and limb anomaliesClinical Genetics, 1976