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.

Hypogonadism

A decreased functionality of the gonad.


合計: 4

                       


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PMID (PMCID)
24092917
 FEMALE Child
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
Zweier C, Kraus C, Brueton L, Cole T, Degenhardt F, Engels H, Gillessen-Kaesbach G, Graul-Neumann L, Horn D, Hoyer J, Just W, Rauch A, Reis A, Wollnik B, Zeschnigk M, Ludecke HJ, Wieczorek D.
J Med Genet. 2013;50(12):838-47.
Borjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked recessive intellectual disability (ID) disorder caused by mutations in the PHF6 gene and characterised by variable cognitive impairment, a distinct facial gestalt, obesity, and hypogonadism.
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.
3593038
 MALE Infant
[Borjeson-Forssman-Lehmann syndrome: report of a case].
Wojciechowski M, Dutra-Filho CS, Da Costa AC, Laser LF, Giugliani R, Rotta NT, Ohlweiler L.
Arq Neuropsiquiatr. 1986;44(3):289-92.
We present a case of Borjeson-Forssman-Lehmann syndrome characterized by the presence of hypogonadism, grotesque facies, microcephaly, large ears, obesity and convulsions.
564968
 MIXED_SAMPLE Adult
Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome.
Weber FT, Frias JL, Julius RL, Felman AH.
J Med Genet. 1978;15(1):63-6.
Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome.