Otopalatodigital syndrome type II associated with omphalocele: Report of three cases
- 15 February 1993
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 45 (4) , 481-487
- https://doi.org/10.1002/ajmg.1320450418
Abstract
We present 3 patients with otopalatodigital (OPD) syndrome type II and omphalocele; 2 of the cases are brothers. There are now 6 known cases of OPD type I or II with omphalocele. We propose that this combination is not co‐incidental and discuss mechanisms that may result in the combination of OPD, omphalocele, and other midline defects.Keywords
This publication has 26 references indexed in Scilit:
- Oto‐palatal‐digital syndrome type II with X‐linked cerebellar hypoplasia/hydrocephalusAmerican Journal of Medical Genetics, 1991
- Familial congenital diaphragmatic defect and associated midline anomalies: Further evidence for an X‐linked midline gene?American Journal of Medical Genetics, 1990
- Syndrome of a craniofacial dysostosis, limb malformation, and omphaloceleAmerican Journal of Medical Genetics, 1990
- The thoracoabdominal syndrome (TAS): A new X‐linked dominant disorderAmerican Journal of Medical Genetics, 1990
- X‐linked midline defectsAmerican Journal of Medical Genetics, 1985
- 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
- Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick‐Needles syndrome)American Journal of Medical Genetics, 1982
- Abnormal facies, cleft palate, and generalized dysostosis: A lethal X-linked syndromeThe Journal of Pediatrics, 1981
- A familial syndrome of cranial, facial, oral and limb anomaliesClinical Genetics, 1976