Hydrolethalus (Salonen‐Herva‐Norio) syndrome: Further clinicopathological delineation
- 1 April 1987
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 26 (4) , 899-907
- https://doi.org/10.1002/ajmg.1320260418
Abstract
Two brothers with severe CNS abnormalities, cleft lip/palate, polydactyly, and lung hypoplasia are reported as examples of the hydrolethalus syndrome, an autosomal recessive disorder. Death from cardiopulmonary arrest occurred in patient 1 at age 4 months and in patient 2 at age 17 days. Detailed radiological and neuropathological description is provided on patient 2. We recommend realtime ultrasonography and, when indicated, fetpscopy for antenatal detection of the craniofacial and limb malformations associated with this syndrome.Keywords
This publication has 14 references indexed in Scilit:
- Prenatal diagnosis of Mohr syndrome by ultrasonographyPrenatal Diagnosis, 1985
- Dandy‐Walker malformation: etiologic heterogeneity and empiric recurrence risksClinical Genetics, 1985
- Bilateral pulmonary agenesis: Association with the hydrolethalus syndrome and review of the literature from a developmental field perspectiveAmerican Journal of Medical Genetics, 1985
- A new lethal chondrodysplasia with spondylocostal dysostosis, multiple internal anomalies and Dandy‐Walker cystClinical Genetics, 1985
- CNS anomalies and the midline as a “developmental field”American Journal of Medical Genetics, 1982
- The hydrolethalus syndrome: delineation of a “new”, lethal malformation syndrome based on 28 patientsClinical Genetics, 1981
- Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part I: Clinical, causal, and pathogenetic considerationsAmerican Journal of Medical Genetics, 1980
- Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part II: Neuropathological considerationsAmerican Journal of Medical Genetics, 1980
- A family with three recessive traits and homozygosity for a long 9qh+ chromosome segmentAmerican Journal of Medical Genetics, 1980
- A familial syndrome of central nervous system and ocular malformationsClinical Genetics, 1975