Congenital malformations associated with anencephaly and iniencephaly.

Abstract

Summary. The necropsy reports of 294 cases of anencephaly and 50 cases of iniencephaly have been examined, and a tabulated list of associated malformations produced. Cases were divided by sex and the presence or absence of spina bifida. Forty-one per cent of the series had other malformations, and other malformations were more common in those cases with spina bifida than in those without. 263A study of diaphragmatic hernia (David and Illingworth, 1976) showed a strong association between diaphragmatic hernia and both anencephaly and iniencephaly. An interest in the reverse association prompted the present study, a simple systematic review of malformations in patients with anencephaly or iniencephaly. Subjects and methodsThe cases were all born in the Bristol region, and were ascertained through the necropsy diagnostic index compiled by Dr N. J. Brown, consultant pathologist, at Southmead Hospital. The necropsy records of all cases listed under the headings of anencephaly and iniencephaly from 1948 to 1975 were studied. Four cases of anencephaly were excluded because a full necropsy had not in fact been performed, leaving 294 cases of anencephaly and 50 cases of iniencephaly. ResultsThe associated malformations are given in the Table, with the cases subdivided by sex and by the presence or absence of spina bifida. The following were not included as malformations: changes in the size of the adrenals, the thymus, the thyroid or the pituitary; club foot; hypoplasia of the lungs; high arched palate.The seven 'genital' defects were: hypospadias with penile hypoplasia (1); hypoplastic penis (2); very hypoplastic testes (1); absent left Fallopian on 28 April 2019 by guest. Protected by copyright.

Elevated rates of severe neural tube defects in a high-prevalence area in Northern China

“…Several authors have noted that rates of iniencephaly and anencephaly (or anencephaly with spina bifida) were higher in areas with high overall NTD rates [Warkany, 1971;David and Nixon, 1976]; however, it is difficult to compare rates as determined in different studies because of variations in the way that NTDs are reported. For example, anencephaly and craniorachischisis are often tallied together, or craniorachischisis is coded as two defects.…”

Anencephaly and its Associated Malformations

“…All the previous studies have proved that the females outnumber males in cases of anencephaly. The female preponderance noticed by previous authors were David TJ [10] at 66%, Panduranga [11] at 56% Aruna [13] recorded 55%.…”

“…Suggesting a correlation between cleft palate and male sex. Earlier studies have also reported cleft lip and palate to be more common in male anencephalic fetus [10,11,13]. Cleft lip was found in 5 cases in association with cleft palate.…”

“…Many researchers found that the most common associated malformations differed according to the geographical location [8,9]. According to David TJ cardiovascular defects were common in Lancashire while urinary tract defects were common in the Bristol [10]. Apart from CNS malformations gastrointestinal and skeletal abnormalities were the most common according to C Pandurang [11] in a study conducted in India.…”

Iniencephaly: prenatal diagnosis and management

“…Associated defects in fetuses with iniencephaly are common (David and Nixon, 1976). Anomalies involving the CNS include cerebral defects such as anencephaly, encephalocele, microcephaly, hydrocephaly, holoprosencephaly, posterior fossa defects and spinal defects such as the characteristic cervical dysraphism and ®xed cervical hyperlordosis (Morocz et al, 1986;Dogan et al, 1996;Romero et al, 1988).…”