The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs.
Open Access
- 1 February 1986
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 23 (1), 64-71
- https://doi.org/10.1136/jmg.23.1.64
Abstract
Three cases are reported of a lethal multiple congenital anomaly syndrome. The infants had moderate limb shortening, joint contractures, polydactyly, and the two with male karyotypes had female external genitalia. Internal anomalies included unilobular lungs, hypoplasia of the anterior portion of the tongue, and renal hypoplasia.This publication has 17 references indexed in Scilit:
- Variability in the Smith-Lemli-Opitz syndrome: Overlap with the meckel syndromeAmerican Journal of Medical Genetics, 1983
- Familial neonatally lethal syndrome of hypoplastic left heart, absent pulmonary lobation, polydactyly, and talipes, probably Smith‐Lemli‐Opitz (RSH) syndromeAmerican Journal of Medical Genetics, 1983
- INTESTINAL AGANGLIONOSIS IN THE SMITH‐LEMLI‐OPITZ SYNDROMEActa Paediatrica, 1983
- Further delineation of the C (trigonocephaly) syndromeAmerican Journal of Medical 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
- A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformitiesHuman Genetics, 1979
- Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: A lethal conditionThe Journal of Pediatrics, 1974
- Autosomal recessive Cerebro‐Oculo‐Facio‐Skeletal (COFS) syndromeClinical Genetics, 1974
- Micrognathia, polydactyly, and cleft palateThe Journal of Pediatrics, 1968
- Implications of agenesis of the spleen on the pathogenesis of conotruncus anomalies in childhood; an analysis of the heart malformations in the splenic agenesis syndrome, with fourteen new cases.1955