Confirmation of a new MR/male pseudohermaphroditism syndrome, Verloes type.
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 very similar to the observation made by Verloes et al. in two male siblings with a hitherto undescribed MCA/MR syndrome.
de Die-Smulders
C
C
Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands.
van Schrojenstein Lantman-De Valk
H
H
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D003638:Deafness / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D012734:Disorders of Sex Development / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D005124:Eye Abnormalities / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D016136:Spina Bifida Occulta / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome