✦ LIBER ✦

Evidence for genetic anticipation in the oculodentodigital syndrome

✍ Scribed by Shapiro, Robert E.; Griffin, John W.; Stine, O. Colin

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 23 KB
Volume: 71
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970711)71:1<36::aid-ajmg7>3.0.co;2-o

No coin nor oath required. For personal study only.

✦ Synopsis

Oculodentodigital syndrome (O.D.) is an autosomal dominant disorder comprising facial anomalies, syndactyly, microcorneae, dental enamel hypoplasia, and leukodystrophy. We describe a four generation family with O.D. in which anomalies such as syndactyly appear congenitally, whereas neurological (i.e., leukodystrophic) signs and symptoms tend to be expressed in a more severe form and/or at an earlier age of onset in successive generations of the kindred. This pattern of phenotypic expression is consistent with the phenomenon of genetic anticipation, and we suggest that O.D. may be a trinucleotide repeat disorder. Am. J. Med. Genet. 71:36-41, 1997.

📜 SIMILAR VOLUMES

Metacarpophalangeal analysis in Crouzon

Metacarpophalangeal analysis in Crouzon syndrome: Additional evidence for phenotypic convergence with the acrocephalosyndactyly syndromes

✍ Murdoch-Kinch, Carol Anne; Ward, Richard E. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 2 views

Crouzon syndrome (CS) is characterized by premature craniosynostosis, orbital proptosis, and midfacial hypoplasia and is related to the acrocephalosyndactylies (ACS) with limb abnormalities. In CS the hands are considered to be normal, but a previous report indicated that there is consistent alterat

Potential panic disorder syndrome: Clini

Potential panic disorder syndrome: Clinical and genetic linkage evidence

✍ Weissman, Myrna M.; Fyer, Abby J.; Haghighi, Fatemeh; Heiman, Gary; Deng, Zemin; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 69 KB 👁 1 views

This paper reports evidence for a possible "chromosome 13 syndrome," which includes panic disorder, kidney or bladder problems, serious headaches, thyroid problems (usually hypothyroid), and/or mitral valve prolapse (MVP). In the course of a genetic linkage study of panic disorder, we noted these me

Prader-Willi syndrome phenotype in X chr

Prader-Willi syndrome phenotype in X chromosome anomalies: Evidence for a distinct syndrome

✍ Stratakis, Constantine A. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 7 KB 👁 2 views

Recently, two female patients with supernumerary small marker X chromosome and a Prader-Willi syndrome (PWS)-like phenotype were reported by Tu ¨mer et al. [1998]. Both patients presented during childhood with obesity that started around the third year of life, mental retardation, small hands and fe

Heterogeneity in Wiedemann-Beckwith synd

Heterogeneity in Wiedemann-Beckwith syndrome: Anthropometric evidence

✍ Moore, Elizabeth S.; Ward, Richard E.; Escobar, Luis F.; Carlin, Mary E. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 72 KB 👁 1 views

Wiedemann-Beckwith syndrome (WBS) has attracted a great deal of attention because of its genetic complexity. Individuals with WBS can be identified objectively by anthropometric analysis. Craniofacial anthropometry in conjunction with multivariate statistical analysis can be used to define patterns

Genetic counseling in Angelman syndrome:

Genetic counseling in Angelman syndrome: Gonadal mosaicism

✍ Stalker, Heather J.; Williams, Charles A.; Wagstaff, Joseph 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 2 KB 👁 2 views

Recently we published a review about genetic counseling and the provision of risk information in Angelman syndrome (AS) ]. However, since then, new evidence indicates that gonadal mosaicism may affect recurrence risk in the subset of AS patients who are affected as the result of UBE3A gene mutations

Schinzel-Giedion syndrome: Evidence for

Schinzel-Giedion syndrome: Evidence for a neurodegenerative process

✍ Shah, Ashish M.; Smith, Michael F.; Griffiths, Paul D.; Quarrell, Oliver W.J. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 1 views

We report on a case of Schinzel-Giedion syndrome in which serial magnetic resonance (MR) brain-imaging studies demonstrated a progressive neurodegenerative process. These findings in addition to ''coarse'' facial appearance and skeletal abnormality suggest that a progressive metabolic defect underli