Total anomalous pulmonary venous connection and a constellation of craniofacial, skeletal, and urogenital anomalies in a newborn and similar features in his 36-year-old father.

We report on a newborn male born to non-consanguineous parents with total anomalous pulmonary venous connection (TAPVC) and additional findings of malformed ears, hypertelorism, brachyphalangy in the hands, pterygium of the elbows, knees, and wrists, complex lower limb pre-axial polydactyly, tibial shortening, clubfeet, horseshoe kidney and a micropenis. He had a 46,XY karyotype. His 36-year-old father had similar craniofacial and limb anomalies suggesting an autosomal dominant syndrome with variable expression. Our patients may represent the 3rd and 4th examples of a newly-described syndrome by Baraitser et al. [(1997) Clin Dysmorphol 6:111-121] which is distinguished by malformed ears, complex pre-axial polydactyly and tibial aplasia in the lower limbs, severe brachyphalangy in the hands, and a micropenis.

Undifferentiated embryonal sarcoma with unusual features arising within mesenchymal hamartoma of the liver: report of a case and review of the literature.

Undifferentiated embryonal sarcoma (UES) is a rare and highly malignant hepatic neoplasm, affecting almost exclusively the pediatric population. It has replaced malignant mesenchymoma, under which diagnostic term the first three cases were described. A link between embryonal sarcoma and mesenchymal hamartoma of the liver (MHL) has long been proposed, because of clinicopathologic overlaps of these entities; however, until recently, this association remained tenuous. Cases of UES arising in a background of mesenchymal hamartoma of the liver have previously been reported in two teenage girls. Discovery of a similar genetic abnormality in MHL and UES has clinched the supposed link between them. There have also been two reports of UES with prominent cystification, one associated with peripheral eosinophilia, and thereby masquerading as hydatid cyst of the liver. We report a case of UES arising in a young boy with MHL, with unusual histologic features, including large mesothelial-lined cysts and ectopic adrenal cortical tissue under Glisson's capsule.

Augmenting local bone with Grafton demineralized bone matrix for posterolateral lumbar spine fusion: avoiding second site autologous bone harvest.

Mineralization and integrity of the bone graft mass were evaluated among patients having posterolateral fusion. Grafting consisted of a composite of Grafton and "local" autologous bone (n=56) or iliac crest autograft alone (n=52). Mineralization was rated radiographically at baseline and at 3, 6, 12, and 24 months. Integrity was judged as fused or not fused. Mineralization ratings did not differ significantly between groups at any postoperative interval (P values of .25-1.00). The percentage of patients fused was similar in both groups (60% and 56% for Grafton and controls, respectively; P=.83). Fifteen control patients reported donor site pain. These findings warrant further evaluation of this composite.

C1q nephropathy presenting as rapidly progressive crescentic glomerulonephritis.

C1q nephropathy is an immune complex glomerulonephritis defined by the presence of mesangial immunoglobulins and complement deposits, most notably C1q, and the absence of clinical and laboratory evidence of systemic lupus erythematosus. Histology in C1q nephropathy is characterized by a slight to severe increase in mesangial cellularity and matrix, with or without segmental sclerosis. C1q nephropathy usually presents with nephrotic-range proteinuria in older children and young adults, and has a poor response to steroids. Patients may have decreased creatinine clearance at presentation, but progression to end-stage renal disease (ESRD) is slow. Severe crescentic glomerulonephritis has not been reported in C1q nephropathy. We describe a 3-year-old Hispanic girl who presented with renal insufficiency. Kidney biopsy showed C1q nephropathy with severe crescentic glomerulonephritis. The clinical and serological evaluation ruled out systemic lupus erythematosus or other immunological or infectious etiologies. In spite of immunosuppressive therapy, she progressed to ESRD within 14 weeks and is currently on chronic peritoneal dialysis. The atypical features of C1q nephropathy observed in our patient, which have not been described in earlier reports, are an early age of onset, severe crescentic glomerulonephritis, and rapid progression to ESRD. C1q nephropathy should be added to the differential diagnosis of glomerulonephritis in young children and in the patient with crescentic glomerulonephritis.

Clear cell myomelanocytic tumor of the falciform ligament/ligamentum teres: a novel member of the perivascular epithelioid clear cell family of tumors with a predilection for children and young adults.

The perivascular epithelioid cell family of tumors (PEComas), defined by their co-expression of melanocytic and muscle markers, includes angiomyolipoma, lymphangioleiomyoma, and clear cell "sugar" tumors of the lung, pancreas, and uterus. We present seven cases of a unique and previously unrecognized tumor of children and young adults, which represents a new addition to the PEComa group of tumors. Culled from three institutions over a 50-year period, all cases occurred in or immediately adjacent to the ligamentum teres and falciform ligament. Six patients were female and one male; their ages ranged from 3 to 21 years (median, 11 yrs). Tumor sizes ranged from 5 to 20 cm (median, 8 cm). All cases consisted of clear to faintly eosinophilic spindled cells arranged in fascicular and nested patterns. The cells had small but distinct nucleoli and low mitotic activity. Immunohistochemically, all cases were positive with antibodies to gp100 protein (HMB-45) and negative for S-100 protein. In three of the seven cases studied immunohistochemically, the tumors expressed smooth muscle actin, melan-A, microphthalmia transcription factor (MiTF), and myosin, but not desmin. No expression of the TSC2 gene product, tuberin, was seen in three cases. One case studied cytogenetically disclosed a t(3;10). Follow-up data, available in six of seven cases (median duration, 18 mos), showed five patients to be free of disease and one to have a radiographically presumed lung metastasis. We think these tumors comprise a new entity for which we propose the term "clear cell myomelanocytic tumor of the falciform ligament/ligamentum teres." The differential diagnosis of these tumors includes clear cell sarcoma of tendons and aponeuroses, leiomyosarcoma, and angiomyolipoma.