Article
Confirmation of a new MR/male pseudohermaphroditism syndrome, Verloes type.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1994
de Die-Smulders C, van Schrojenstein Lantman-De Valk H, Fryns J P
Abstract excerpt
In this report we describe a moderately mentally retarded adult male with a remarkable association of additional clinical symptoms, severe hearing loss, ocular colobomata, hypogonadism of central origin, distinct craniofacial features resembling the Borjeson-Forssman-Lehmann syndrome and skeletal anomalies with cervical spina bifida, hyperkyfosis and thoracic deformity. The findings in the present patient are...
Topics
- Abnormalities, Multiple
- Adult
- Deafness
- Disorders of Sex Development
- Eye Abnormalities
- Humans
- Intellectual Disability
- Karyotyping
- Male
- Phenotype
- Spina Bifida Occulta