منابع مشابه
X-linked hydrocephalus.
Since the original description of a sex-linked mode of inheritance in congenital hydrocephalus (Bickers and Adams, 1949), subsequent reports have been published presenting additional families in which this inheritance pattern appeared to be present. Bamatter (1949) described a family in which the mother had delivered 2 hydrocephalic males and 3 normal females. Zimmer (1952) reviewed a family wi...
متن کاملPrenatal diagnosis of X linked hydrocephalus without aqueductal stenosis.
The outcome of four successive pregnancies in a woman heterozygous for X linked hydrocephalus is described. The last two were scanned by ultrasound. In one, a good prognosis was given; the fetus was male but there was no evidence of dilated cerebral ventricles. In the other, hydrocephalus was diagnosed. The absence of aqueductal stenosis in this case supports the hypothesis that in this X linke...
متن کاملThe syndrome of sex-linked hydrocephalus.
Bickers and Adams (1949) and Edwards, Norman and Roberts (1961) have presented detailed neuropathological examinations on two cases of hydrocephalus secondary to aqueductal stenosis in families with many hydrocephalic males. These, taken together, provide incontrovertible evidence of a specific syndrome with sex-linked recessive inheritance. In this paper further families are described in which...
متن کاملFanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.
BACKGROUND The VACTERL with hydrocephalus (VACTERL-H) phenotype is recognised to be a severe manifestation of autosomal recessive Fanconi anaemia. Several families have been described in which the VACTERL-H phenotype segregates as an X linked syndrome. The mutations which cause X linked VACTERL-H syndrome are not known. OBJECTIVE To determine if mutations in FANCB, which are known to cause Fa...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 1986
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s0317167100036726