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B F Carpenter

Publications and source records attributed to B F Carpenter.

At least 19 recordsLinked to original sources
PubMed1993

Mosaic r(13) in an infant with aprosencephaly.

We report on a stillborn male infant with a mosaic ring 13 karyotype (45,XY,-13/46,XY,-13,+r(13)) with apparent aprosencephaly and clinical findings similar to those reported previously in the XK-aprosencephaly syndrome. Findings of patients with r(13) are often similar to those seen in individuals with del(13q). This case was unusual because of the presence of aprosencephaly, although brain malformations such as arhinencephaly and cerebellar hypoplasia are present in at least one-half of reported patients with 13q-. The overlap between these syndromes suggests a possible chromosomal model of the XK-aprosencephaly syndrome.

Abnormalities, Multiple↗
PubMed1991

Chloroma.

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Child↗
PubMed1991

Intraabdominal pulmonary sequestration.

A left upper quadrant fetal abdominal mass was detected at 24 weeks gestation. The mass was again confirmed in a postnatal ultrasound. Pathological analysis of the excised mass demonstrated an intraabdominal lung sequestration with Stocker type II congenital cystic adenomatoid malformation (CCAM). The sonographic characteristic of these lesions are those of a homogeneous echogenic mass with variable shape passing through or arising from the diaphragm. Surgical excision is recommended because of the uncertainty of the preoperative diagnosis and the possibility of malignant changes in CCAM.

Abdomen↗
PubMed1991

Atelosteogenesis I and boomerang dysplasia: a question of nosology.

We report a patient whose clinical, radiologic and histopathologic findings are compatible with severe atelosteogenesis (AT-I). The patient is compared with previously reported cases of AT-I, as well as with patients reported as having "boomerang" dysplasia. We conclude that it is reasonable to consider AT-I and boomerang dysplasia as part of a spectrum, probably reflecting a common etiology. More and detailed clinical, radiologic and histopathologic reports are needed to further clarify the relationship of AT-II and AT-III in this family of skeletal dysplasias.

Bone and Bones↗
PubMed1991

Four unusual cases of sudden and unexpected cardiovascular death in infancy and childhood.

Four unusual cases of sudden and unexpected cardiovascular death in infancy and early childhood that were found during a ten-year autopsy review at our institutions are presented. In Case 1, an asymptomatic 2-year-old male, sudden death resulted from an acute myocardial infarct due to occlusion of coronary arteries that had been previously damaged by unsuspected arteritis. Case 2, a previously well 7-month-old male, died from an acute myocardial infarct due to an unsuspected anomalous origin of the coronary arteries from a single, stenotic coronary ostium. Case 3, a previously well 21-month-old black male, died from a splenic sequestration crisis due to undiagnosed sickle cell disease. Case 4, a 2-month-old female with suspected Marfan syndrome, died from a ruptured dissecting aneurysm of a patent ductus arteriosus. Accuracy of diagnosis was of particular importance in the latter two cases because of the possible genetic implications.

Cardiovascular Diseases↗
PubMed1991

Anomalous coronary arteries arising from the aorta associated with sudden death in infancy and early childhood. An autopsy series.

Anomalous coronary arteries arising from the aorta are a recognized cause of myocardial ischemia and sudden death. Death has been precipitated by exercise in most cases. We present the results of an autopsy study in which sudden and unexpected deaths associated with coronary anomalies were found in three children (less than 2 years of age). In two cases, death was not associated with exercise. In two case, the myocardium was morphologically normal, and in the third case, there was an extensive recent anterior myocardial infarct with a background of established fibrosis. Coronary artery anomalies may be easily overlooked in this age group because of small vessel size and difficulty in dissection; this is particularly so when there are normally placed ostia. One consequence of this is potential for confusion with sudden infant death syndrome.

Aorta↗
PubMed1991

Prenatal ultrasonographic diagnosis of dicephalus conjoined twins.

The authors report the prenatal diagnosis by ultrasonography of dicephalus dipus dibrachius conjoined twins (with two heads, one body, two legs and two arms) at 31 weeks' gestation. They discuss the types of conjoined twinning and their frequency of occurrence and the criteria for prenatal diagnosis, and they offer recommendations for management.

Adult↗
PubMed1990

Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons.

A diagnosis of Smith-Lemli-Opitz syndrome was made shortly after birth in a small-for-dates infant, on the basis of a characteristic face, penoscrotal hypospadias, bilateral postaxial hexadactyly, and bilateral syndactyly of toes 2-3. The clinical course was marked by failure to thrive, severe delay, refractory myoclonic jerks beginning at age 2 months, and increasing hepatosplenomegaly. He developed corneal clouding and increased gingival hypertrophy and died at age 18 weeks. Autopsy disclosed widespread storage of mucopolysaccharides and lipids within the macrophages and, to a lesser extent, parenchymal cells, of all organ systems. There was extensive demyelination of the cerebral white matter, and dystrophic calcification in the cerebrum, cerebellum, and brainstem. There was no evidence of primary neuronal involvement in the storage. Although the chance concurrence of 2 uncommon diseases is rare, a causal link between the clinical anomalies and the storage disorder cannot be argued convincingly on the basis of one case. Careful pathologic studies of other children who die with clinical signs compatible with Smith-Lemli-Opitz syndrome are indicated.

Brain↗
PubMed1990

Congenital teratomas of the neck and nasopharynx: a clinical and pathological study of 18 cases.

Congenital teratomas of the neck and nasopharynx are unusual tumours that seldom metastasize. Due to their rarity, reviews often have relied upon compilations of isolated case reports. We report our experience of the early outcome of 18 cases (14 cervical, four nasopharyngeal) to demonstrate the high morbidity and mortality that these benign but critically placed lesions have because of local mass effects. Six patients (33%) either were stillborn or died of disease within 2 days of birth; of the survivors, four (22%) had significant respiratory obstruction requiring surgery. Tumour location and size rather than histologic grading were the most significant features affecting the immediate clinical course. All but one of the patients who underwent early surgical resection had a favourable outcome.

Cause of Death↗
PubMed1987

Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course.

Infantile neuroaxonal dystrophy (IND) is a well-established autosomal recessive neurodegenerative disease. Clinical signs generally begin toward the end of the first or during the second year of life. We are aware of at least 4 cases of pre- or perinatal onset of this condition, and report here on 2 brothers who were affected at birth and had an unusual clinical course with onset of peripheral gangrene that progressed to autoamputation of digits. Both boys died in infancy with pathological changes compatible with IND. The somewhat different clinical course in these brothers leaves open the possibility that this is a variant of neuroaxonal dystrophy due to an X-linked recessive mutation.

Abnormalities, Multiple↗
PubMed1987

Leiomyosarcoma.

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Abdominal Neoplasms↗
PubMed1987

Neutrophilic eccrine hidradenitis in acute myelomonocytic leukemia.

Neutrophilic eccrine hidradenitis is a rare but distinct dermatosis that has recently been described in adults with acute myelogenous leukemia. We report the first pediatric case in an 11-year-old girl with acute myelomonocytic leukemia who developed this eruption following her first and second course of VAPA-10 induction chemotherapy. Skin biopsy revealed selective neutrophilic infiltration around the eccrine coils, which is characteristic of this dermatosis. The clinical and biopsy findings of our patient are presented and compared with the previous three reported cases.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1986

Implications of malformations not due to amniotic bands in the amniotic band sequence.

It is widely accepted that the primary event in the amniotic band sequence (ABS) is early rupture of the amnion, and that the development of the fetus is then disrupted by entanglement and abrasion. The mechanism of the initial rupture is unknown. An argument raised in favor of this theory has been the apparent absence of non-band-derived malformations in the ABS. Here we report on four infants with ABS and additional malformations that are not readily explainable on the basis of band disruptions. These infants, together with some additional observations in the literature, and a growing number of reports of familial ABS, raise the question as to whether the formation of bands and other "non-disruption" abnormalities may have a common primary etiology in some cases. The primary mechanism could operate through disturbing the vascular system, and the factors involved might be both extrinsic or intrinsic, and some instances might date to an abnormality of the germ disk.

Abnormalities, Multiple↗
PubMed1985

Melanotic neuroectodermal tumor of infancy.

Melanotic neuroectodermal tumor of infancy is a specific but unusual tumor of infancy for which only sporadic cases have been reported in the literature. This paper presents a case in an infrequent site, the epididymis, and summarizes the literature on the subject.

Adult↗
PubMed1985

Malakoplakia of the tongue--a case report.

Malakoplakia of the tongue occurring in a nine year old Caucasian boy is reported. This rare chronic inflammatory disease usually occurs in the urinary tract, especially the bladder, and is uncommon in children. Presenting symptoms included a tongue mass mimicking tumor and dysphagia. Treatment consisted of biopsy and subsequent antibiotics toward suspected gram-negative organisms. The patient recovered uneventfully and has remained well.

Biopsy↗