Peculiar face, deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation; a new autosomal recessive syndrome?
- 1 August 1986
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 30 (2) , 136-141
- https://doi.org/10.1111/j.1399-0004.1986.tb00583.x
Abstract
Two siblings with peculiar facies, deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation were reported. The similarity of both the dysmorphic features and the clinical course suggests a new syndrome, which inheritance is considered to be autosomal recessive.Keywords
This publication has 7 references indexed in Scilit:
- A simple R-banding technique by BrdU-Hoechst treatment and Giemsa staining following heating and ultraviolet exposureJournal of Human Genetics, 1984
- The oto‐palato‐digital syndrome, proposed type IIAmerican Journal of Medical Genetics, 1983
- Variability in the Smith-Lemli-Opitz syndrome: Overlap with the meckel syndromeAmerican Journal of Medical Genetics, 1983
- The G and BBB syndromes: Case presentations, genetics, and nosologyAmerican Journal of Medical Genetics, 1978
- Smith-Lemli-Opitz syndrome: Review and report of two affected siblingsEuropean Journal of Pediatrics, 1975
- Hypertelorism, Microtia, and Facial CleftingAmerican Journal of Diseases of Children, 1969
- A newly recognized syndromeof multiple congenital anomaliesThe Journal of Pediatrics, 1964