Direct insertion of euchromatic material from chromosome Y in the X-chromosome in hypogonadotropic hypogonadisms with Crohn's disease.

The relationship between chromosomal abnormalities and Crohn's disease has not been established. Crohn's disease is associated with inflammation of the bowel, severe abdominal pain and chronic diarrhea. Its etiology is not known at present. A recessive gene with incomplete penetrance is thought to be a factor which does not follow simple mendelian inheritance. We report a case, where the euchromatin material of Y chromosome (p11.1 p11.2) has been directly inserted into the long arm of the X chromosome (q21.2), and is assumed to be the most likely cause of hypogonadotropic hypogonadism in this patients. It could also be that the function of the testis-determining factor (SRY) has been disrupted due to the insertion, causing loss of testicular development.

A genetic male infant with female phenotype in camptomelic syndrome: a possible relationship to exposure to oral contraceptives during pregnancy.

PIP: Camptomelic syndrome is a severe malformation disorder affecting infant cartilage and bone formation. This syndrome is also characterized by sex reversal in a significant proportion of phenotypic females. In this case report, the authors describe a typical case of camptomelic syndrome in a black infant who had been exposed in utero to an oral contraceptive (OC). The infant was born after a full-term pregnancy. The mother had taken an OC containing 0.5-1.0 mg norethindrone and 0.035 mg ethinyl estradiol. Exposure had occurred for 6 months after conception. Parents were healthy and unrelated. The infant exhibited significant bone malformation in her legs, arms, feet, spine, and rib cage. Chromosome analysis yielded a normal 46,XY G-banded karyotype. The infant died at the age of 3 years, 6 months. Autopsy findings evidenced a female reproductive system. Microscopic examination of ovarian tissues revealed only immature sex cords; no oocytes were found. The authors briefly comment on camptomelic syndrome cases previously reported and implications of X-Y chromosome-gene effects associated with this syndrome. This may be the second reported case involving exposure to OCs early in pregnancy and sex reversal.^ieng

Fetal alcohol syndrome at the turn of the 20th century. An unexpected explanation of the Kallikak family.

At the turn of the 20th century, studies of a family known in the literature as the Kallikaks were used to document the hereditary nature of mental retardation, poverty, and antisocial behavior. This family was said to authenticate eugenic theory, which states that heritable characteristics carried by individuals on "independent unit characters are unalterable determinants of behavior and performance. A review of the original Kallikak data, however, suggests that in utero exposure to alcohol rather than heredity contributed significantly to the transgenerational learning failure seen throughout the Kallikak pedigree. However, eugenic theory was so thoroughly accepted that the promotion and acceptance of "hereditary feeblemindedness" as the principal cause of the developmental problems in the affected offspring smothered the research efforts on in utero effects of alcohol until long after the eugenic concepts were abandoned later in the century.

A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.

Three unrelated Puerto Rican boys, ranging in age from 3 to 4 years, had marked, central, non-progressive hypotonia, chronic constipation, severe psychomotor retardation, seizures or abnormal electroencephalograph or both, abnormal dermatoglyphics, delayed bone age, dysharmonic skeletal maturation, and preponderance and larger size of type 2 muscle fibres. Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth. Two of the three patients also had undescended testes, hypertelorism, and tapered fingers. Birth weight, postnatal physical growth, and head size were average. Family and gestational histories and laboratory evaluations were normal. The combination of features observed in the three boys appears to be distinct and to represent a new syndrome.

The Coffin-Siris syndrome.

We report a white female infant with typical features of Coffin-Siris syndrome including thick eyebrows, flat nasal bridge, anteverted, wide nose tip, generalised hypertrichosis, scalp hypotrichosis, absence of the fifth fingernails and toenails, absence of the distal phalanges of the fifth fingers and of the second to fifth toes, small patellae, inguinal hernia, and sucking and feeding difficulties. There was decreased fetal activity and intrauterine growth retardation.

Lack of evidence for craniofacial dysmorphism in perinatal human immunodeficiency virus infection.

Thirty children perinatally exposed to human immunodeficiency virus (HIV) infection and 30 healthy control subjects matched for age, sex, and race were evaluated for growth, head size, craniofacial dysmorphism, dermatoglyphics, and other physical features. Thirteen patients met the criteria for group IV (constitutional, neurologic, and secondary infectious diseases), 14 for group III (persistent generalized lymphadenopathy or hepatosplenomegaly), and three for group II (asymptomatic infection) of the classification of HIV infection established by the Centers for Disease Control, Atlanta. Postnatal growth failure and microcephaly, observed in a significant proportion of patients (46.7% and 30%, respectively), could be attributed to chronic illnesses and to progressive central nervous system lesions in HIV-infected patients. There were however, no significant differences between patients and controls with regard to the incidence of craniofacial features and dermatoglyphics, and the incidence of other anomalies was not different from that expected in the population. The patients born to drug-using mothers were not different from those born to non-drug-using mothers in relation to the studied criteria. We could not confirm the presence of characteristic craniofacial dysmorphism in children exposed to perinatal HIV infection.

Distichiasis, congenital heart defects and mixed peripheral vascular anomalies.

We report on a previously apparently unreported syndrome of distichiasis with congenital heart defects and with mixed peripheral vascular anomalies in a mother and her four children. The mother had a ventricular septal defect; both daughters had surgery for patent ductus arteriosus. Sinus bradycardia alone (elder son), with stress induced asystole (younger son), and with wandering atrial pacemaker (both daughters) are documented electrocardiographically. Three of the five have edema, two have visible varicosities, three have symptoms consistent with chronic venous disease of the legs, and the older daughter has complaints consistent with arterial disease in the legs. Doppler flow studies demonstrated post-phlebitic syndrome in all but the younger daughter, and vasospastic disease in the mother, older daughter, and second son.

A familial dilated cardiomyopathy associated with cataracts and hip-spine disease.

A dilated cardiomyopathy was observed in two generations of a kindred, associated with articular disease and premature cataracts, a unique triad not previously described to our knowledge. The cardiomyopathy was characterized histologically by basophilic PAS-positive granulofilamentous deposits in the myocardium. The articular disease included hip joint degeneration, irregular intervertebral disks, and platyspondyly. The lenticular abnormalities may occur in young adults prior to other manifestations of the triad. Consanguinity was noted in the parents, and inheritance was most compatible with an autosomal recessive trait, with variable penetrance and expressivity.

Abnormalities in offspring associated with prenatal marihuana exposure.

5 newborn infants, whose mothers acknowledged steady use of marihuana prior to and during pregnancies, displayed symptoms of intrauterine growth retardation, neurological problems, and abnormal morphogenesis. These findings fit in with the experimental studies and surveys of pregnant human populations which have indicated that cannabis products have teratogenic potential, though rigorous proof must await further information.

Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: a new familial syndrome.

A 10-year-old boy and his 9-year-old sister, with abnormalities of distal phalanges of hands and feet, onychodystrophy, deafness, mental retardation, seizure disorder, and abnormal dermatoglyphics, are described. Six similarly affected patients have been reported. These eight patients represent a new syndrome, which is inherited as an autosomal recessive trait.

I-cell disease (mucolipidosis II). Differential expression in satellite cells and mature muscle fibers.

A well documented case of I-cell disease is presented. Light- and electron-microscopic studies of muscle revealed marked accumulation of characteristic I-cell inclusions in satellite cells and only scattered autophagic vacuoles in muscle fibers. Correlation with previous tissue culture studies indicated an amelioration of structural abnormalities with differentiation from satellite cell to mature muscle fiber. Histochemically, the muscle demonstrated paucity of type I fibers without evidence of denervation thus suggesting a developmental disturbance in motor unit organization. Selective type I fiber dysfunction and reduced satellite cell regenerative capacity may be related factors in the neuromuscular disability of patients with I-cell disease.

Factors influencing outcome of pregnancy in heavy-drinking women.

18 pregnant women identified as heavy drinkers by the criteria of Cahalan et al., gave birth to 6 normal infants, 5 infants with fetal alcohol syndrome (FAS) and 7 with partial FAS. Average daily alcohol consumption of mothers of normal infants was less than that of mothers of FAS and partial FAS infants. Lower socioeconomic class, higher parity and increased use of tobacco and other drugs were non-alcohol-related maternal factors which appeared to influence the outcome of pregnancy in heavy-drinking women.

Dermatoglyphic abnormalities in the fetal alcohol syndrome.

Dermatoglyphics of 19 male and 23 female patients with fetal alcohol syndrome were compared with those of matched controls. Both male and female patients differed in several of the dermatoglyphic characteristics from their sex-matched controls. The abnormalities of dermatoglyphics reported here constitute a valuable marker trait of the teratogenic effect of the alcohol on fetal development and provide additional diagnostic signs for the fetal alcohol syndrome.

Temporary increase in chromosome breakage in an infant prenatally exposed to lead.

An infant exposed to high levels of lead in utero was found to have increased numbers of cells with chromosome breaks in blood samples obtained at 6 weeks and 3 months of life. Later samples did not show significant abnormality. Physical and neurological examinations of the patient up to 18 months of age gave results within normal limits.