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Biomedical subjects

Dale Huff

Publications and source records attributed to Dale Huff.

5 recordsLinked to original sources
PubMed2004

Autosomal dominant inheritance of infantile myofibromatosis.

We present three families with infantile myofibromatosis (IM; OMIM no. 228550) inherited in an autosomal dominant (AD) manner. These three pedigrees prompted re-assessment of pedigrees available within the genetic, oncologic, surgical, and pathologic literature, which suggest autosomal recessive (AR) inheritance. All familial IM may be interpreted as AD or, alternatively, there may be genetic heterogeneity for IM. As most nodules tend to regress spontaneously, familial history may be difficult to obtain and/or confirm. Clinical diagnosis and establishment of inheritance pattern can be important for prognosis and the recognition that other family members may be affected.

Adult↗
PubMed2004

Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome?

BACKGROUND: Severe anomalies of the forebrain together with radial limb anomalies have been reported in Steinfeld syndrome, XK aprosencephaly, and partial monosomy 13q. Steinfeld syndrome is an extremely variable autosomal dominant condition that, in severe cases, is characterized by holoprosencephaly, radial limb defects, and renal and/or cardiac defects. In mild cases there may be only thumb hypoplasia, ocular coloboma, or oral clefts. XK aprosencephaly, also called Garcia-Lurie syndrome (GLS), is a usually sporadic disorder with radial limb defects and aprosencephaly/atelencephaly. Based on two atypical sibships, autosomal recessive inheritance has been suggested. Two patients with variations of monosomy 13q have been described with atelencephaly but, generally, Steinfeld and XK aprosencephaly patients are chromosomally normal. Holoprosencephaly in 13q deletion patients appears to be due to ZIC2 mutations, but ZIC2 has not been previously tested in Steinfeld syndrome or GLS patients. CASES: We report three sporadic cases with clinical features intermediate between Steinfeld and GLS, including severe forebrain malformations and radial limb defects. All had normal karyotypes, and mutations in ZIC2 were absent in the two cases tested. CONCLUSIONS: In our cases and in the literature there is significant clinical overlap between Steinfeld syndrome and GLS. We propose these conditions may not be nosologically or etiologically distinct. The spectrum of severe forebrain anomalies in these conditions is broader than previously thought and may include some neural tube defects. Mild cases are difficult to identify and the full range of expression remains unknown. Autosomal dominant inheritance with incomplete penetrance and frequent new mutations is postulated. Thorough clinical evaluation is recommended for children with severe forebrain and radial limb defects.

Abnormalities, Multiple↗
PubMed2003

Crane-Heise syndrome: a second familial case report with elaboration of phenotype.

The constellation of features in Crane-Heise syndrome (CHS) includes 1) poorly mineralized calvarium, 2) characteristic facial anomalies, and 3) extracranial skeletal anomalies that involve both vertebral anomalies and absent clavicles. Since the original report of Crane and Heise [1981: Pediatrics 68:235-237] describing three affected siblings, there have been few isolated cases published. We present two siblings from a second pedigree with features strikingly similar to those presented in the original publication, and distinct clinical differences, including distal phalangeal hypoplasia and mild cardiac and GI abnormalities that may represent familial variation. Despite extensive cytogenetic, molecular, and biochemical analyses, we could not elucidate a molecular mechanism for this rare phenotype.

Abortion, Induced↗
PubMed2003

Epithelial ovarian tumors in children: a retrospective analysis.

BACKGROUND/PURPOSE: Epithelial tumors of the ovary account for about 15% of pediatric ovarian masses. The authors reviewed a 14-year experience with ovarian masses to understand the spectrum of pathology, presentation, and outcome of children with epithelial lesions. METHODS: All ovarian masses resected or biopsied at the authors' institution from 1988 to the present were reviewed retrospectively. Patient age, presenting symptoms, operative procedures, postoperative treatment, and outcome were obtained from the medical record. RESULTS: A total of 240 cases were identified. A total of 123 (51.2%) were nonneoplastic in nature. Of the 117 neoplastic masses, 79 (67.5%) were germ cell tumors and nineteen (16.2%) were epithelial-derived tumors. Patients with epithelial tumors had a mean age of 13.9 +/- 4 years. Ten patients (52.6%) presented with abdominal pain, and 9 (47.4%) presented with an asymptomatic mass. Eleven underwent oophorectomy, 6 underwent cystectomy, and 2 had biopsy alone. Four patients (21%) had ascites, and 1 (5.3%) had a pleural effusion. The histopathologic diagnoses for the epithelial tumors included 9 serous cystadenomas (47%) and 3 mucinous cystadenomas (16%), 3 mucinous cystadenocarcinomas (16%), and 4 serous tumors of borderline malignancy (21%). Two patients (11%) had bilateral disease. Four patients (21%) underwent a subsequent laparotomy for either staging or recurrence, and 2 patients (11%) required chemotherapy. One patient (5.3%) died of ovarian adenocarcinoma. CONCLUSIONS: Epithelial tumors comprise a small but significant proportion of pediatric ovarian masses. The pediatric surgeon must understand the biologic characteristics, operative management, and follow-up treatment of these tumors, and how these differ from germ cell lesions.

Adolescent↗