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H A Bender

Publications and source records attributed to H A Bender.

10 recordsLinked to original sources
PubMed2001

GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome caused by deletions in glypican 3 (GPC3). SGBS is characterized by pre- and postnatal overgrowth, a characteristic facial appearance, and a spectrum of congenital malformations which overlaps that of other overgrowth syndromes. We performed GPC3 deletion screening on 80 male patients with somatic overgrowth in the following categories: SGBS (n = 19), possible SGBS (n = 26), including families in which individuals had previously been diagnosed with other overgrowth syndromes, and Wiedemann-Beckwith syndrome (WBS) (n = 35). Using exon-specific PCR and Southern blot analysis, we identified seven GPC3 deletions. In most cases a clear X-linked family history was not present. In two cases, GPC3 deletions were identified in patients belonging to pedigrees published previously as other overgrowth syndromes: one with a diagnosis of Sotos syndrome and the other Perlman syndrome with nephroblastomatosis. A third patient developed hepatoblastoma, a tumor type not previously described in SGBS. No GPC3 deletions were identified among the WBS patients. Direct sequencing of all GPC3 exons in the remaining 13 SGBS patients without GPC3 deletions did not identify any further mutations, raising the possibility of alternative silencing mechanisms and/or other genes in the pathogenesis of SGBS. Our results validate the clinical specificity of the facial appearance, skeletal/hand anomalies, and supernumerary nipples in patients with GPC3 deletions. Our data also suggest that nephroblastomatosis and hepatoblastoma are included in the phenotypic spectrum of GPC3 deletions and SGBS, underscoring the importance of tumor surveillance in these children.

Abnormalities, Multiple↗
PubMed1985

An unusual distal arthrogryposis.

We report on a mother and her dizygotic twin fetuses who were affected with distal arthrogryposis. In addition the mother has cervical vertebral anomalies, scoliosis, short stature, nuchal and axillary pterygia, and unusual facial appearance. The fetuses had a short neck, pterygium colli, retrognathia, and mild apparent scoliosis. We think that these three individuals have a previously undescribed type of distal arthrogryposis.

Adult↗
PubMed1984

Terminal and interstitial deletions of the long arm of chromosome 7: a review with five new cases.

Sixteen cases of terminal deletions and 17 cases of interstitial deletions of the long arm of chromosome 7 have been reported to date. We present two new cases of the former and three of the latter. The somatic changes in these patients are tabulated and an update on the anomalies associated with the various cytogenetic entities is presented. Changes found in over one-third of patients with 7q terminal deletion syndrome include: developmental delay, pre- and postnatal growth retardation, generalized hypotonia, abnormal electroencephalograms with or without seizures, feeding problems in infancy, microcephaly, prominent forehead, ocular hypertelorism, eye defects, broad nasal bridge, bulbous nasal tip, auricular malformations, micrognathia, chest abnormalities, genital malformations in males, and abnormal palmar and plantar creases. Evidence for the localization of the Kidd blood group gene on chromosome 7 distal to band q32, as suggested by previous reports, is reviewed; we conclude that the evidence does not warrant placement of the gene in this region of the genome.

Abnormalities, Multiple↗
PubMed1984

Acrofacial dysostosis with severe facial clefting and limb reduction.

We describe two unrelated patients with a severe form of acrofacial dysostosis. Facial defects in both include coloboma of the lids, micrognathia, lateral oral clefting, palatal clefting, and severe auricular anomalies, with one showing bilateral cleft lip and right oblique facial clefting as well. Both have absent forearms and thumbs. Lower limbs were severely reduced in both infants with the feet attached either to the femur or directly to the trunk. Parental consanguinity was present in one case. The condition in these two infants appears to represent either a severe form of Nager acrofacial dysostosis or a new type of acrofacial dysostosis.

Abnormalities, Multiple↗
PubMed1983

Hirschsprung disease: etiologic implications of unsuccessful prenatal diagnosis.

We describe an infant with Hirschsprung disease (congenital aganglionosis of the intestine) involving the colon and terminal ileum. Midtrimester prenatal diagnosis of this disorder in this infant was attempted utilizing amniotic fluid disaccharidase analyses, ultrasound, and amniography. Decreased disaccharidase activities in amniotic fluid have been reported previously in association with other forms of intestinal obstruction. At 15 weeks' gestation, normal amniotic fluid disaccharidase levels were obtained. Serial ultrasound evaluations did not indicate any pathology, and the results from amniography were inconclusive. The implication of the normal disaccharidase values is that Hirschsprung disease may in some cases result from degeneration of intestinal ganglia after 16 weeks' gestation rather than from faulty migration of neural crest cells. The inheritance of Hirschsprung disease is generally consistent with sex-modified multifactorial inheritance with a lower threshold of expression in males. The case we report has a family history of three affected first- and second-degree relatives. Autosomal dominance with variable expressivity is a possible explanation in this family.

Amniotic Fluid↗