Primary hypogonadism in the Borjeson-Forssman-Lehmann syndrome.

Abstract

Case reports urine is a major source of amniotic fluid AFP, urethral obstruction alone would result in a low amniotic AFP level, as in disorders associated with renal dysgenesis. The raised amniotic fluid and maternal serum AFP is most probably caused by regurgitation of bile and gastric contents into the amniotic fluid due to intestinal atresia. Transudation of fetal serum as a result of the gross abdominal distension is unlikely. In omphaloceles with exposure of blood vessels, easy transudation of fetal serum will result in increased amniotic fluid AFP (Nevin and Armstrong, 1975; Weiss et al., 1976), but when the exomphalos is covered with skin amniotic fluid AFP is normal.Fortunately, in most instances where a high AFP level has been found in the absence of a neural tube defect, the fetal abnormalities have been so serious as not to compromise the validity of termination of the pregnancy because of the high AFP value.

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

“…1 Two BFLS case reports published subsequently also described other men with severe mental retardation, round face with large normally formed ears, obesity, hypogonadism, and short stature. 10,11 Familial cases of BFLS were later identified and these men had similar facial characteristics with prominent supraorbital ridges, microcephaly, deep-set eyes, ptosis, and large ears as well as obesity, severe mental retardation, hypotonia, and hypogonadism. 4,12,13 Heterozygous women with BFLS were reported with a wide range of phenotypic features and varying IQ levels.…”

Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndrome

“…Some features, which are quite frequent in BFLS and allow for the discrimination of this disorder from other mental retardation/obesity related syndromes are: hypogonadism, long, large ears, prominent supraorbital ridge, long philtrum, protruding lips, kyphosis, coarse face, and narrow palpebral fissures, which have been described also as lid ptosis. 8 BFLS has been mapped by linkage analysis to the chromosomal region Xq26-q27 with the highest lod score between markers DXS10 and DXS51. [9][10][11] The candidate gene region was refined later by inclusion of additional family members and by an improved genetic map of this region.…”

Linkage localization of Börjeson‐Forssman‐Lehmann syndrome

“…The affected males had severe MR (I& 20-301, obesity, short stature, unusual facies, and hypogonadism. Since 1962,7 males with BFLS from 4 different families have been described [Weber et al, 1978;Robinson et al, 1983;Ardinger et al, 19841. Additional common clinical manifestations in these reports include ptosis, hypotonia, visual impairment, and minor skeletal anomalies.…”

“…The BFLS locus was modeled as an X-linked dominant diallelic locus with reduced penetrance in carrier females. Carrier penetrance was determined by calculating the proportion of affected obligate carrier women from all families reported in the literature [Borjeson et al, 1962;Weber et al, 1978;Robinson et al, 1983;Ardinger et al, 19841. Obligate carriers were scored as any female with a t least one affected offspring (male or female), yielding an empiric penetrance of 217 = 0.29.…”