ABSTRACT
Meckel Gruber syndrome is an uncommon, lethal, autosomal recessive disorder, associated consistently with polycystic kidneys, posterior encephalocoele and polydactly. We report three cases in non-consanguineous marriages, suggesting that the single gene defect occurs more commonly in non-consanguineous marriages than mutant genes associated with other autosomal recessive disorders that are usually related with consanguineous marriages. The usefulness of prenatal diagnosis is discussed.
Subject(s)
Abnormalities, Multiple/genetics , Consanguinity , Encephalocele/genetics , Female , Fetal Death/genetics , Humans , Infant, Newborn , Male , Polycystic Kidney Diseases/genetics , Polydactyly/genetics , SyndromeABSTRACT
INTRODUCTION: Low birthweight babies make a disproportionate contribution to perinatal morbidity and mortality. Antenatally they manifest as "small for gestational age" fetuses. Their detection is an important aspect of antenatal care. OBJECTIVES: To compare the effectiveness of antenatal detection of "small for gestational age", fetuses by a clinic in a teaching hospital and field clinics. DESIGN: Comparative descriptive study. SETTING: Professorial Obstetric Unit of De Soysa Maternity Hospital, Colombo. METHODS: Antenatal records of 67 consecutive women who delivered low birthweight babies at term were reviewed. Entries in the teaching hospital clinic records and the pregnancy record of the field clinics were studied. A deviation corresponding to more than two weeks' growth was considered significant. The period of gestation at which the deviation was first detected and any follow up action taken were noted. RESULTS: Of the total sample of 67 women 56 had also attended a field clinic. A significantly greater percentage of small for dates fetuses were detected by the primary care staff (71.4 vs 53.7%; p < 0.05). They also detected them earlier in pregnancy (26.4 vs 30.7 weeks; p < 0.05). However, referral for specialised care was arranged only in 32% by the field clinics. CONCLUSION: The detection rate of small for gestational age fetuses by staff of field clinics was close to the higher rates quoted in the literature. Only a minority of these fetuses were assessed further in both settings indicating a deficiency in antenatal care.
Subject(s)
Ambulatory Care Facilities/standards , Body Weight , Female , Fetus/physiology , Hospitals, Maternity/standards , Hospitals, Teaching/standards , Humans , Infant, Newborn , Infant, Small for Gestational Age , Outpatient Clinics, Hospital/standards , Prenatal Care/standards , Pubic Symphysis/anatomy & histology , Sri LankaABSTRACT
We report three patients with ambiguous genitalia and 46 XX karyotype who had intra-abdominal testes. The mechanism for the development of testes in such patients, the risk of malignancy and value of histological assessment of intra-abdominal testes are discussed.