Wilma L Sirkin

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Smith-Lemli-Opitz syndrome (RHS) (SLOS, OMIM 270400) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 3beta-hydroxysterol Delta(7)-Delta(8)-reductase gene, DHCR7. We report a fetus with holoprosencephaly and multiple congenital anomalies who was homozygous for the IVS8-1G-->C mutation. Following termination of(More)
Isolated congenital diaphragmatic hernia is often a sporadic event with a low recurrence risk. However, underlying genetic etiologies, such as chromosome anomalies or single gene disorders, are identified in a small number of individuals. We describe two fetuses with a unique pattern of multiple congenital anomalies, including diaphragmatic hernia, short(More)
A male neonate presented with an acute onset of severe intra-abdominal bleeding, haemorrhagic shock and multiple fractures leading to death on d 27. Menkes' disease was diagnosed at autopsy and confirmed by copper accumulation studies on cultured fibroblasts. Such an early onset of fatal complications in this condition has not been previously reported. New(More)
BACKGROUND Varicella Zoster virus (VZV) infection is potentially very serious in bone marrow transplant recipients, and may manifest as a disseminated visceral infection. This condition is generally accompanied by a vesicular rash. OBJECTIVES We review here a case of fulminant fatal disseminated VZV infection, not accompanied by skin involvement, and the(More)
The aim of this study was to evaluate the cytospin technique as an alternative method to prepare fine-needle aspiration (FNA) specimens of the breast. To do so, the cytology of 148 breast FNAs that had been prepared by the cytospin technique and that had histologic correlation, was reviewed. All the cases that were diagnosed as malignant by cytology were(More)
OBJECTIVES The objective of this study is to describe the prenatal sonographic features and the results of DNA analysis on three fetuses with dyssegmental dysplasia, Silverman-Handmaker type (DD-SH). METHODS A retrospective review of three fetuses with confirmed DD-SH was conducted. The fetal ultrasound findings, the radiological characteristics, and the(More)
Alveolar capillary dysplasia, a rare cause of neonatal pulmonary hypertension characterized by a developmental abnormality in the pulmonary vasculature, was diagnosed by lung biopsy in a male newborn maintained on nitric oxide therapy for 18 days. Autopsy confirmed the pulmonary vascular defect and demonstrated deficient airspace formation. In addition, a(More)
OBJECTIVE To review and evaluate the place of surgical treatment in the management of rhabdomyosarcoma of the head and neck in children. DESIGN Retrospective analysis of patient charts from January 1, 1972, to December 31, 1998. SETTING Tertiary pediatric referral center. PATIENTS Twenty-nine consecutive children with nonorbital head and neck(More)