Burhan Say

CONTRIBUTION OF FETAL/MATERNAL INCOMPATIBILITY TO ÆTIOLOGY OF PRE-ECLAMPTIC TOXÆMIA

Data are presented on an association between toxaemia of pregnancy and consanguinity of patients, seen at a Turkish hospital, and their husbands. Women with toxaemia were less frequently related to their husbands than those with no signs of pre-eclampsia. The relationship between toxaemia in twin pregnancies and the sexes of the twin pairs from four sources are examined. In all four pre-eclampsia seems to be more common in unlike-sex than in like-sex twin pregnancies, and, by extension, to be more common in dizygous than in monozygous twin pregnancies.

Incidence of Congenital Malformations in a Sample of the Turkish Population

10,000 liveborn babies resulting from preg nancies of 28 of more weeks were examined by a team of 3 pediatricians, 1 orthopedic surgeon, 1 pediatric cardiologist, and 1 urologist in order to find the incidence of various congenital malformations. Relatively high incidence rates for imperforate anus and polydactyly were encountered (1.1 and 2.6/1,000 births, respectively). The rates for anencephaly and congenital heart disease were also found to be somewhat higher than those reported for most white populations.

Trisomy-8 syndrome.

SummaryA male child with large ears, large and upturned nose, everted lower lip, strabismus, brachydactyly with dystrophic fingernails, bilateral, deep, plantar creases, pes-cavovarus deformity and mild mental retardation is presented. Chromosome analyses revealed that he had an extra number 8 chromosome (46,XY/47,XY,+8). The findings characteristic for the trisomy-8 syndrome are discussed.ZusammenfassungEin männliches Kind mit großen Ohren, großer aufwärts gerichteter Nase, auswärts gestülpter Unterlippe, Strabismus, Brachydaktylie, mit dystrophischen Fingernägeln, beiderseitigen tiefen Beugefurchen der Hände, Hohlfuß in Varusstellung und leichtem Schwachsinn wird beschrieben. Die Chromosomenanalyse hat ein Extrachromosom Nr. 8 ergeben (46,XY/47,XY,+8). Die für Trisomie 8 charakteristische Symptomatik wird erörtert.

Frequency of Red Cell Adenosine Deaminase and 6-Phosphogluconate Dehydrogenase in a Sample of the Turkish Population

The adenosine deaminase (ADA) and 6-phosphogluconate dehydrogenase (6-PGD) polymorphisms were examined in cord blood samples of Turkish neonates. The frequency of the genes ADA2 and 6-PGD

OCULODENTODIGITAL DYSPLASIA SYNDROME

A 23‐month‐old boy with typical findings of oculodentodigital dysplasia syndrome was presented and the inheritance pattern of this syndrome was discussed.

Unusual calcium deposition in cartilage associated with short stature and peculiar facial features: A case report

A 7-year-old girl with unusual facial features, punctate calcifications of the cartilage and congenital conductive deafness is presented. It is suggested that this case may represent a hitherto undescribed syndrome since the findings in this patient do not fit into any of the well described disorders such as Conradis disease, oto-palato-digital syndrome or cerebro-hepato-renal syndrome.

Goodpasture's Syndrome (Pulmonary Hemosiderosis with Nephritis)

papiledema and retinal bleeding on the right. Other findings were not remarkable. Chest x-rays showed bilateral lung infiltrations. The Hb level was 6 gm, Hct 21 per cent, reticulocytes 9 per cent. Apart from 3 per cent normblasts, differentials were within normal limits. His red cells showed polychromasia, poikilocytosis, and mild hypochromia. Urine sediment contained few red cells and proteinuria. Serum iron level was low, Coombs test negative. Total serum bilirubin was 1.1 mg, NPN, 43-47 mgm. Spleen aspiration biopsy revealed myeloid metaplasia. Other laboratory tests were within normal limits.

45,XO Turner's syndrome, Wilm's tumor and imperforate anus

SummaryAn eleven-year-old girl with 45,XO Turners syndrome, Wilms tumor and imperforate anus is presented. The family history revealed that a sib of the patient also had imperforate anus. A review of the literature showed that the occurrence of Wilms tumor in patients with Turners syndrome has not been recorded previously, although it is known that anomalous differentiation of the kidneys is relatively common in this condition.ZusammenfassungEin elfjähriges Mädchen mit 45,XO-Turner-Syndrom, Wilms-Tumor und Atresia ani wird beschrieben. Ein Geschwister hatte ebenfalls eine Atresia ani gezeigt. Wie eine Durchsicht der Literatur ergab, was das Vorkommen des Wilms-Tumors beim Turner-Syndrom vorher neimals beschrieben worden, obwohl bekannt ist, daß Nierenfehlbildungen bei diesem Syndrom relativ häufig sind.

Corneal opacity, microphthalmia, mental retardation, microcephaly and generaIized muscular spasticity associated with hypergIycinemia

A 5‐year‐old girl with an oculo‐cerahral syndrome born to consanguineous parents is presented. The patient had glycinuria in addition to the usual findings of cloudy corneas, spastic diplegia and motor and mental retardation encountered in patients with this syndrome. Interestingly, tapetoretinal dystrophy was found in two maternal uncles.

THE CAT‐EYE SYNDROME WITH UNUSUAL SKELETAL MALFORMATIONS

ABSTRACT. Balci, S., Halicioglu, C., Say, B. and Taysi, K. (Department of Pediatrics and Division of Clinical Genetics, Hacettepe University, Ankara, Turkey). The cat‐eye syndrome with unusual skeletal malformations. Acta Paediatr Scand, 63: 623, 1974.—A fifteen day old female infant with anal atresia, rectovaginal fistula, short left forearm and agenesis of the left thumb is presented. In addition, the patient had a small, extra chromosome which was associated with D or G group chromosomes. The skeletal survey revealed aplasia of the first rib on the right as well as aplasia of the radial bone, first metacarp and thumb on the left. These radiological findings associated with the cat eye syndrome have not been reported previously.