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Increased Amniotic Fluid α-Fetoprotein, Familial Hydrocephalus, and Renal Dysmorphology

COLIN CLIVE SINCLAIR-SMITH, MBCHB, MMED; JAN WIGGELINKHUIZEN, MBCHB, MMED, FCP; MATILDA MARY NELSON, MBCHB, DCH, FRCP
Am J Dis Child. 1980;134(6):619-621. doi:10.1001/archpedi.1980.02130180075022.
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The association of hydrocephalus and congenital renal disease as a syndrome complex is rare. Apert's, Meckel's, Robert's, and the orofaciodigital (type 1) syndromes have occasionally been reported with this combination. All of these have easily identified physical manifestations that allow syndrome identification as do trisomy 13, trisomy 18, and triploidy. In Zellweger syndrome, severe CNS defects are reported in association with renal and hepatic cysts where, apart from a distinctive facies, visible malformations may be minimal. The familial nephrotic syndromes and infantile polycystic disease of the kidneys have no characteristic external signs. This report is concerned with two brothers and a sister who had no external physical defect apart from hydrocephalus and in whom the kidneys were abnormal.

Family History.—The mother first came to our notice in 1975 when she was 36 years old. She and her husband are not related, and the family history was normal. In 1973,

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