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R W Driggers

Publications and source records attributed to R W Driggers.

6 recordsLinked to original sources
PubMed2002

Early second trimester prenatal diagnosis of Neu-Laxova syndrome.

Neu-Laxova is a rare, uniformly lethal, autosomal recessive condition with characteristic limb posturing, facial dysmorphic features, and central nervous system abnormalities. Forty-two cases of Neu-Laxova syndrome have been reported, with only four of these diagnosed prenatally. Three of the four cases were diagnosed at or after 32 weeks' gestation. The fourth case was diagnosed at 22 weeks' gestation in a patient who was followed with serial ultrasound studies due to having a prior affected child. At 19 weeks' gestation, we present the earliest reported prenatal diagnosis of Neu-Laxova syndrome in a primigravida with a non-informative family history.

Adult↗
PubMed2001

Non-mosaic trisomy 20 presenting at 21 weeks' gestation as a thoraco-abdominal mass.

Non-mosaic trisomy 20 is rare in fetuses surviving beyond the first trimester. We report a case of a fetus with non-mosaic trisomy 20 in amniotic fluid cultures obtained during the prenatal evaluation of an unusual thoraco-abdominal mass which was found at autopsy to be pulmonary sequestration. Gross inspection and autopsy of the fetus revealed multiple anomalies.

Abdominal Neoplasms↗
PubMed1999

Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).

Primary anophthalmos is a heterogeneous condition. In its nonsyndromal form, it is usually considered an autosomal recessive trait. However, other causes such as chromosomal abnormalities and prenatal insults need to be considered. We report on a unique reciprocal translocation 46,XX,t(3;11)(q27;p11.2) in a baby with isolated anophthalmos. Both Chitayat et al. [1996] and Alvarez Arratia et al. [1984] have reported on cases of terminal deletion of the long arm of chromosome 3. In each case the child had multiple anomalies including microphthalmia or anophthalmia. Because our patient appears to have no other anomalies, this break point may indicate that a genetic locus for eye formation exists at chromosome site 3q27. Published 1999 Wiley-Liss, Inc.

Anophthalmos↗
PubMed1998

Delaying surgery for thyroid cancer in pregnancy. A case report.

BACKGROUND: Management of thyroid cancer in pregnancy is controversial, as evidenced by disagreement in recommendations cited in leading obstetrics textbooks. Most thyroid carcinomas are well differentiated and pursue an indolent course. Many physicians recommend delay in surgical therapy until after delivery because of operative morbidity. CASE: A 27-year-old primigravida was found to have a solitary thyroid nodule at her initial obstetrics appointment. Fine needle aspiration was consistent with papillary carcinoma. Although detected at 8 weeks' estimated gestational age (EGA), the decision was made to defer surgical therapy until postpartum. The patient was referred to a tertiary care facility at 24 weeks' EGA secondary to rapid growth of the nodule. Surgery performed at that time revealed invasive disease. CONCLUSION: Review of the literature suggests that delay in definitive therapy stems from early reports of fetal loss related to surgery, but contemporary data suggest that the risk of fetal loss related to surgery is minimal.

Adult↗
PubMedDate not supplied

Pathogenesis of acardiac twinning: clues from an almost acardiac twin.

OBJECTIVE: To search for clues to the pathogenesis of acardiac twinning. METHODS: We examined a case of monoamniotic twins in which twin A's only sonographic abnormality was a dilated, tortuous ductus venosus. Twin B also had this abnormality as well as multiple other anomalies that included enormous hydrops and a severely hypoplastic heart. Following termination of pregnancy, autopsy was performed. RESULTS: Postmortem examination of the placenta confirmed monochorionic, monoamniotic placentation with two adjacent trivascular cords. Autopsy confirmed the sonographic findings of enormous hydrops in twin B with a severely malformed, almost nonexistent heart. In addition, the liver was small and was represented by a cyst-like structure with thin rims of congested parenchyma surrounding large vascular spaces. CONCLUSION: We believe the sequence of events in this case was early twin-to-twin transfusion resulting in a dysfunctional heart in twin B. This enabled a twin reversal arterial perfusion sequence with further deterioration of twin B's heart and extreme congestion of deoxygenated blood exiting the heart into the inferior vena cava and ductus venosus. This case supports the concept that circulatory reversal in the face of an initially functioning heart may lead to congestion, tissue hypoxia and secondary organ atrophy.

Adult↗