Herbert H. Pomerance

Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia†

Lymphopenic agammaglobulinemia was associated with short-limbed dwarfism and ectodermal dysplasia in a brother and sister. Four similar cases have been reported as sporadic experiences. Our observations, together with these cases, indicate an autosomal recessive transmission and suggest a basic association between skin, bone, and immunologic development. the dwarfism in these children is not, as was previously suggested, characteristic of achondroplasia. One child died of a graft-versus-host reaction following blood transfusion, emphasizing the hazards of transfusion in lymphopenic immunologic disorders.

LETHAL INFANTILE CORTICAL HYPEROSTOSIS

We present an unusual case of the rare occurrence of lethal infantile cortical hyperostosis (Caffey disease). Clinical and Pathological aspects are discussed.

CLINICOPATHOLOGIC CONFERENCE: BARTH SYNDROME

A case of Barth Syndrome is presented and discussed by both clinician and pathologist, in this traditional clinico-pathologic conference. The current understanding of etiology is included, including elevation of 3-methylglutaconic acid (3MGC).

WILLIAMS SYNDROME ASSOCIATED WITH CROHN DISEASE, MULTIPLE INFECTIONS, AND CHRONIC GRANULOMATOUS DISEASE

A 20-year-old Caucasian female with Williams syndrome, complicated by congenital heart disease, presented with a 6- month history of dull, aching periumbilical abdominal pain, worse with meals, and...

CLINICO PATHOLOGY CONFERENCE: INFANT WITH HIGH ARCHED PALATE, BELL-SHAPED CHEST, JOINT CONTRACTURES, AND INTRAUTERINE FRACTURES

A case is presented of a female newborn infant delivered with an Apgar Score of 1, who could not be resuscitated. There was a high arched palate, bell-shaped chest, contractures of writes inflexion, ankles and knees in extension, and intrauterine fractures. Clinical discussion led to a diagnosis of arthrogryposis secondary to fetal akinesia syndrome caused by nemaline myopathy. Pathology and pathologic discussion confirmed this diagnosis.

CLINICO-PATHOLOGIC CONFERENCE: NEWBORN WITH HYDROPS FETALIS CAUSED BY CMV INFECTION CASE REPORT

Jorge Lujan-Zilbermann u Assistant Professor of Pediatrics, University of South Florida College ofMedicine,Tampa, Florida, USA Atilano Lacson u Clinical Associate Professor of Pediatrics, University of South Florida College ofMedicine and Pediatric Pathologist, All Children’s Hospital, St. Petersburg, Florida, USA Enid Gilbert-Barness u Professor of Pathology and LaboratoryMedicine, Pediatrics, and Obstetrics and Gynecology, University of South Florida College ofMedicine,Tampa, Florida, USA Herbert H. Pomerance u Professor of Pediatrics, University of South Florida College of Medicine,Tampa, Florida, USA

CLINICO-PATHOLOGIC CONFERENCE: AN 11-YEAR-OLD GIRL WITH LUPUS ERYTHEMATOSUS, VENOUS THROMBOSES, AND PURPURA FULMINANS

An 11 year old girl with known diagnosis of lupus erythematosus with nephritis was admitted with respiratory distress during an episode in which she had infection with varicella-zoster virus complicated by purpura fulminans. She had a downhill course, terminating with a pulmonary embolus.

A survey of the Rh problem in mixed racial group

Summary Three thousand eleven pregnancieswere followed from presentation to post-partum period, for determination of the incidences of Rh negativity and of hemolytic disease of the newborn. Rh testing and adequate diagnostic measures applied to the offspring of these mothers were employed. In this group, a mixed white, Negro, and Puerto Rican group, accurate figures on the incidence of Rh negativity were obtained. Only nine cases of hemolytic disease were detected, of which two were stillbirths. The latter were the only deaths.

Amelia: Review of literature and report of case

Summary Thirteen known cases of amelia, congenital absence of all extremities, are reviewed from the literature. An additional case is reported, with clinical and roentgenographic findings; an interesting feature of this case was the manifestation of unexplained, intermittent hyperthermia. A brief summary of the present-day concept of production of congenital anomalies in general, and amelia more specifically, is presented.

CLINICO-PATHOLOGIC CONFERENCE: FETOMATERNAL TRANSFUSION

A case is presented of a newborn infant with severe fetomaternal transfusion, which resulted in profound anemia and early demise.