A 3 11/12-year-old Japanese girl was found to exhibit typical clinical features of the Borjeson-Forssman-Lehmann syndrome, including severe mental retardation, epileptic seizures controllable by anticonvulsants, obesity, microcephaly, a coarse facies with prominent supraorbital ridges and deep-set eyes, bilateral internal strabismus, large ears, small hands with tapering hyperextensible fingers and metaphyseal widening of the long bones. She showed hyperresponsive patterns of serum luteinizing and follicule-stimulating hormones upon LH-RH loading. Her karyotype was normal. The parents were mentally and phenotypically normal. The inheritance of the disease was compatible with X-linked recessive in six kindreds in the literature. Skewed X inactivation was considered the most likely mechanism for the occurrence of the disease in a girl.
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Matsuo, K., Murano, I. & Kajii, T. Borjeson-Forssman-Lehmann syndrome in a girl. Jap J Human Genet 29, 121–126 (1984). https://doi.org/10.1007/BF01873532
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