Proliferative Vasculopathy and an Hydranencephalic‐hydrocephalic Syndrome: a Neuropathological Study of Two Siblings

Harper, Clive; Hockey, Athel

doi:10.1111/j.1469-8749.1983.tb13747.x

Cited by 36 publications

(19 citation statements)

References 4 publications

(5 reference statements)

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“…Harper and Hockey (1983) and Harding et al (1995) also reported families. In 2002, Witters et al reported a family obtaining a diagnosis by ultrasound at 12 weeks' gestation with cystic dilation already present.…”

Section: Hydranencephaly Calcification Of Basal Ganglion and Prolifmentioning

confidence: 87%

Pena‐Shokeir phenotype (Fetal akinesia deformation sequence) revisited

Hall

2009

Birth Defects Research

126

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Lack of fetal movement (fetal akinesia) in humans produces a recognizable sequence of deformations. Many developmental processes must be accomplished for fetal movement to be normal, and for extra-uterine life to be sustainable. Prenatal diagnosis is possible through real-time ultrasound studies as early as 12 weeks. Most reported cases die in utero, at birth, or in the newborn period. Advances in embryo/fetus pathology have led to the recognition of the many familial subtypes, allowing improved genetic counseling and early recognition in subsequent pregnancies.

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Section: Hydranencephaly Calcification Of Basal Ganglion and Prolifmentioning

confidence: 87%

Pena‐Shokeir phenotype (Fetal akinesia deformation sequence) revisited

Hall

2009

Birth Defects Research

126

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“…Fowler syndrome is a rare lethal condition, with only 20 cases from 11 families reported so far [Fowler et al, 1972; Harper and Hockey, 1983; Norman and McGillivray, 1988; Harding et al, 1995; Castro‐Gago et al, 2001; Laurichesse‐Delmas et al, 2002; Witters et al, 2002; Halder et al, 2003; Usta et al, 2005; Ibrahim et al, 2007; Al‐Adnani et al, 2009]. All 14 of the cases presented here were identified by the presence of glomeruloid cerebral vascular proliferation, the characteristic finding in Fowler syndrome.…”

Section: Discussionmentioning

confidence: 99%

Fowler syndrome—A clinical, radiological, and pathological study of 14 cases

Williams

Patel

Fallet-Bianco

et al. 2009

American J of Med Genetics Pt A

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We report on 14 fetuses from 10 families with the autosomal recessive syndrome of proliferative vasculopathy and hydranencephaly-hydrocephaly (Fowler syndrome). In four families sibs were affected and in six the parents were consanguineous. Antenatal ultrasonography showed hydrocephaly in all except two fetuses, but hydranencephaly was diagnosed in only one case. Postural abnormalities were seen in 10 fetuses and structural brain abnormalities were suspected in 3. At autopsy the cerebral cortex appeared as a translucent membranous structure (hydranencephaly) in most fetuses. However, in one case, the ventricles were dilated but the cortical mantle was relatively well preserved. Histology of the brain showed the characteristic glomeruloid vascular proliferation of Fowler syndrome in all cases, but with variable extent of involvement of the central nervous system. Dystrophic calcification and necrosis were always present. Extra-cranial anomalies included micrognathia (10 fetuses), cleft palate (1 fetus), cystic hygroma (2 fetuses), joint contractures (12 fetuses), and pterygia (11 fetuses). The typical proliferative vasculopathy was never observed outside the central nervous system and karyotypes were normal in the 10 fetuses studied. Fowler syndrome should be considered in the differential diagnosis of lethal multiple pterygium syndrome, fetal akinesia, and hydrocephalus in addition to classical hydranencephaly. Autopsy and study of the brain are essential to differentiate autosomal recessive Fowler syndrome from other causes of hydrocephaly and hydranencephaly, which may have a lower recurrence risk.

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“…Fowler et al [1] 1972 5 siblings 26-33 No Hydrocephalus, FADS Brain a and spinal cord Harper and Hockey [5] 1983 2 siblings 40 and Indicates involvement of the cerebrum, basal ganglia, and cerebellum/brain stem.…”

mentioning

confidence: 96%

Fowler Syndrome Presenting as a Dandy-Walker Malformation: A Second Case Report

2009

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Fowler syndrome, also known as proliferative vasculopathy and hydrocephaly-hydranencephaly, is a lethal condition characterized by hydrocephalus associated with progressive destruction of central nervous system tissue as a result of an unusual and characteristic proliferative vasculopathy. The occurrence of Fowler syndrome in consanguineous families and recurrence in both sexes are suggestive of an autosomal recessive transmission. We present the second case of Fowler syndrome presenting as a Dandy-Walker malformation, in a consanguineous family.

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Proliferative Vasculopathy and an Hydranencephalic‐hydrocephalic Syndrome: a Neuropathological Study of Two Siblings

Cited by 36 publications

References 4 publications

Pena‐Shokeir phenotype (Fetal akinesia deformation sequence) revisited

Pena‐Shokeir phenotype (Fetal akinesia deformation sequence) revisited

Fowler syndrome—A clinical, radiological, and pathological study of 14 cases

Fowler Syndrome Presenting as a Dandy-Walker Malformation: A Second Case Report

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