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 with 3 stillborn hydrocephalic males, while Borle (1953) reported 3 hydrocephalic brothers in one family. Geilman (1959) presented twin hydrocephalic brothers. Edwards, Norman, and Roberts (1961) and Edwards (1961), described 4 families with histories of hydrocephalus, one with 15 affected males. Needleman and Root (1963) reported 2 families, one of which revealed hydro-cephalic male offspring from 2 different fathers. Warren, Lu, and Ziering (1963) reviewed a family with 3 known hydrocephalic brothers and 2 additional probable hydrocephalic males. Abdul-Karin, Iliya, and Iskandar (1964) reported 3 consecutive stillborn hydrocephalics from a single mother. Williamson (1965) discussed one family with 2 hydrocephalic brothers and another family with a male hydrocephalic, whose mother had one hydrocephalic brother and another brother with probable hydrocephalus. An additional 2 families were described by Walker (1960), one with 4 hydro-cephalic males. The evidence that the families reported demonstrate an X-linked recessive inheritance pattern was as follows: hydrocephalus occurred only in males; all females were normal; the condition was transmitted from one generation to another by a carrier female; and finally, the reports of Edwards et al. in which a woman had hydrocephalic male offspring from two different fathers. The purpose of this paper is to present a family with X-linked 326 inherited hydrocephalus in which 4 males were affected in 2 generations. The importance of distinguishing this group of patients from non-familial hydrocephalus and the relation of genetic counselling will be discussed. Case Report The propositus (Pedigree III.2) presented at Children's Memorial Hospital at 8 days of age with an enlarged head and probable congenital megacolon. He was the product of a full-term uncomplicated pregnancy of a gravida 2 para 2, 25-year-old woman whose previous child, a female infant with 18-trisomy, died at 17 months of age. Delivery was complicated by the large head, and forceps were necessary. Head circumference at birth was 41-0 cm., weight 3643 g., chest circumference 31-5 cm., and anterior and posterior fontanelles both measured 3 x 4 cm. The head did not transilluminate and skull x-rays showed no calcifications. The head circumference on the fifth …