Re: First‐trimester features of Fowler syndrome (hydrocephaly–hydranencephaly proliferative vasculopathy)

Witters, Ingrid

doi:10.1002/uog.123

Cited by 6 publications

(1 citation statement)

References 10 publications

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“…It is often associated with pterygia, cystic hygroma, and pulmonary hypoplasia. Witters and Fryns 2003 identified 2 cases of Fowler syndrome out of 30 cases of FADS. Other atypical cases of Fowler syndrome without FADS, but with the typical histological findings, have also been reported [Halder et al, 2003].…”

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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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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Early ultrasonographic changes in Fowler syndrome features and review of the literature

et al. 2005

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Current awareness in prenatal diagnosis

2003

Prenatal Diagnosis

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In order to keep subscribers up‐to‐date with the latest developments in their field, John Wiley & Sons are providing a current awareness service in each issue of the journal. The bibliography contains newly published material in the field of prenatal diagnosis. Each bibliography is divided into 17 sections: 1 Books, Reviews & Symposia; 2 General Interest; 3 Normal Fetal Development; 4 Gametogenesis and Pre‐implantation Diagnosis; 5 First Trimester Diagnosis; 6 Second Trimester Diagnosis; 7 Fetal Diagnosis by Ultrasound and Other Imaging; 8 Maternal Screening; 9 Screening for Carriers of Genetic Abnormality; 10 Technological Developments; 11 Confined Placental Mosaicism and Uniparental Disomy; 12 Molecular Cytogenetics; 13 Fetal Cells in Maternal Circulation; 14 Fetal Therapy; 15 Psychosocial Aspects; 16 Epidemiology and Environmental Factors; 17 Developmental Pathology. Within each section, articles are listed in alphabetical order with respect to author. If, in the preceding period, no publications are located relevant to any one of these headings, that section will be omitted

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Re: First‐trimester features of Fowler syndrome (hydrocephaly–hydranencephaly proliferative vasculopathy)

Cited by 6 publications

References 10 publications

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

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

Early ultrasonographic changes in Fowler syndrome features and review of the literature

Current awareness in prenatal diagnosis

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