Nesrin Bingol

Teratogenicity of cocaine in humans

To study teratogenicity of cocaine in humans, we studied three groups of pregnant women and their offspring: group 1, 50 women who abused cocaine only; group 2, 110 women who were polydrug abusers; and group 3, 340 who were drug free. All three groups were similar for socioeconomic status, cigarette smoking, and ethnicity. Maternal age of group 1 was similar to that of group 3, but group 2 mothers were significantly older. Gravidity was significantly higher in groups 1 and 2 compared with group 3. No statistical difference was found in spontaneous abortion rate among the three groups, but the stillbirth rate was significantly higher in group 1 (chi 2 = 6.89, P less than or equal to 0.01). All stillbirths were related to abruptio placentae. Birth weight, length, and head circumference were significantly decreased in infants in groups 1 and 2 compared with group 3 (P less than or equal to 0.0001), but no statistical difference was found between groups 1 and 2. The congenital malformation rate was significantly higher in group 1 compared with group 3 (chi 2 = 7.07, P less than or equal to 0.01). We conclude that cocaine abuse in humans significantly reduces weight of the fetus, increases the stillbirth rate related to abruptio placentae, and is associated with a higher malformation rate.

Chromosomal abnormalities in undescended testes

Abstract There is a high incidence of chromosomal abnormalities found in undescended testes. Five of seven patients with unilateral undescended testes had abnormal testicular chromosomes and normal blood chromosomes. Four of six patients with bilateral undescended testes had abnormal testicular chromosomes with normal blood chromosomes. It is postulated that the demonstrated chromosomal abnormalities in these undescended testes is the prime mover in the failure of testes to descend and its increased proclivity to neoplastic degeneration.

Incidence of major congenital malformations in offspring of alcoholics and polydrug abusers

The incidence of major congenital malformations was compared in the offspring of mothers who abused alcohol only (group I), versus mothers who abused alcohol and opiates (group II) during pregnancy. In group I the percent of patients with malformations was 33, where as in group II it was 14. The prevalence of fetal alcohol syndrome was higher in blacks than Hispanics. Independent of race the alcohol-opiate combination seems less teratogenic to the fetus than alcohol alone.

802 TERMINAL LONG ARM DELETION OF CHROMOSOME 1, A CLINICALLY RECOGNIZABLE SYNDROME

We are reporting a one year old Hispanic female with terminal deletion of the long arm of chromosome 1 [del (1) (q43qter)], and reviewing all cases from the literature. With our patient there are 12 known (lq-) syndromes, of these seven were reported from the U.S.All patients had severe mental retardation, growth deficiency and unusual facial features; microcephaly, sparse fine hair, eye and ear malformations, flat nasal bridge with bulbous nose, carp-like mouth with tucked-in lower lip and micrognathia. Variable associated malformations of skeletal, cardiac, and genital systems were present in most.The typical facial dysmorphology along with the associated abnormalities makes (1q-) a clinically definable syndrome. Despite the striking similarities of the dysmorphic features in this syndrome, only three of the 12 known cases were diagnosed at birth by karyotyping. In half of the patients the physicians focused their attention on the respiratory problems occurring in the neonatal period, and the mental retardation was attributed to perinatal hypoxia. Two of the 12 cases were familial, while 10 were de novo deletions. Recognition of this syndrome is more significant in familial cases where a phenotypically normal parent with the balanced translocation may have several affected offspring necessitating genetic counseling and prenatal diagnosis

549 FAMILIAL FETAL ALCOHOL SYNDBOME INCIDENCE IN BLACKS AND HISPANICS

In a previous study we noted a higher incidence of fetal alcohol syndrome (F7AS) in blacks, vs. Hispanics. We new compared the incidence of familial FAS and alcohol-related effects (ARE) in black, (group I) and Hispanic (group II) patients, ranging in age from 1 day to 20 years. The average age of mothers at first visit was slightly higher in group II (31 vs. 28.6 in group I). The amount of alcohol abused during pregnancy (≥ 3 oz of absolute alcohol/day), average duration of alcohol abuse and socio-economic background (on public assistance, unwed mothers) were similar in both groups. Group I comprised 16 families with 39 children, 16 females and 23 males. Eleven families had 2 afflicted children, 4 families had 3 and one family had 5 afflicted children. FAS was diagnosed in 25 patients and ARE in 14. Group II comprised 7 families with 17 children, 10 females and 7 males. Five families had 2 afflicted children, one family had 3 and 1 family 4 afflicted children. FAS was found in 13 patients and ARE in 4. Though our clinic population is 65% Hispanic, familial FAS was significantly more frequent in blacks (P < .01). We conclude that for yet unexplained reasons single and multiple cases of FAS are more frequent in black than in Hispanic families.

Fetal alcohol syndrome revisited

The findings in 63 patients (aged 1 day to 23 years) with fetal alcohol syndrome are analyzed and compared with a survey of the literature. A younger age at onset of alcoholism was noted in the mother, and there was a high incidence of speech problems in the offspring, an abnormality not previously reported in the fetal alcohol syndrome.