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Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization.

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We report on a 16-year-old boy with a maternally inherited ~ 18.3 Mb Xq13.2-q21.31 duplication delimited by aCGH. As previously described in patients with similar duplications, his clinical features included intellectual disability, developmental delay, speech delay, generalized hypotonia, infantile

Exceptional Association Between Klinefelter Syndrome and Growth Hormone Deficiency.

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Klinefelter syndrome (KS) is characterized in adults by the combination of a tall stature, small testes, gynecomastia, and azoospermia. This case is described in a North African population of the Mediterranean region of North Africa. We report the case of a male 16 years old, of Arab ethnic origin,

FG syndrome update 1988: note of 5 new patients and bibliography.

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At the eve of its mapping, the pre-molecular picture of the FG syndrome is heavily biased towards the severe end of the phenotypic spectrum because present knowledge is largely based on propositi. It is an X-linked, incompletely recessive, complexly pleiotropic syndrome with considerably variable

Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13.

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Angelman syndrome (AS, OMIM 105830) is a neurogenetic disorder with firm clinical diagnostic guidelines, characterized by severe developmental delay and speech impairment, balanced and behavioral disturbance as well as microcephaly, seizures, and a characteristic electroencephalogram (EEG). The

Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.

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OBJECTIVE To describe clinical and behavioral features of 10 men from 2 families with Borjeson-Forssman-Lehmann syndrome (BFLS) and missense mutations in the PHF6 zinc-finger transcription factor gene. METHODS BFLS behavioral features were compared with other age-matched men with other syndromes and

Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations.

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Börjeson-Forssman-Lehmann syndrome is an X-linked condition caused by PHF6 mutations. The classical description of males with this disorder includes severe intellectual disability with epilepsy, microcephaly, short stature, obesity, hypogonadism, and gynecomastia. We present three males with PHF6

Hypomelanosis of ITO. A study of 76 infantile cases.

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We show the complications observed in a large series of children with hypomelanosis of Ito (HI) or incontinentia pigmenti achromians, studied in a neurology service over 30 years. Of the 76 patients, 35 were male (46%) and 41 female (54%) with ages ranging from newborn to 10 years at the time of the

Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.

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Long-term observations of individuals with the so-called Langer-Giedion (LGS) or tricho-rhino-phalangeal type II (TRPS2) are scarce. We report here a on follow-up of four LGS individuals, including one first described by Andres Giedion in 1969, and review the sparse publications on adults with this

[Chemical embolization using conjugated estrogen--a clinical study of 40 cases].

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For the treatment of dural arteriovenous malformation (AVM), meningioma and other external carotid lesions, a method of chemical embolization using a conjugated estrogen is reported. A total of 40 cases were treated, including 11 cases of dural AVM, 20 cases of meningioma and 9 other cases such as

[Two cases of stroke associated with the use of finasteride, an approved drug for male-pattern hair loss in Japan].

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We report two cases of stroke associated with the use of finasteride at 1 mg/day, which is approved in Japan for the treatment of male-pattern hair loss. The first case involved a 35-year-old male taking 1 mg of finasteride daily for 6 months to prevent male-pattern hair loss. He was taken to a

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