Borjeson-Forssman-Lehmann syndrome

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

Cervical spina bifida



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PMID (PMCID)
8031539
 MALE Adult
Confirmation of a new MR/male pseudohermaphroditism syndrome, Verloes type.
de Die-Smulders C, van Schrojenstein Lantman-De Valk H, Fryns JP.
Genet Couns. 1994;5(1):73-5.
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.