Two brothers with varying combinations of severe developmental delay, epilepsy, microcephaly, tetralogy of Fallot and hydronephrosis

Authors
Ryan, A Burn, J Court, S Jackson, T Smith, JC Barwick, D
Citation
A. Ryan et al., Two brothers with varying combinations of severe developmental delay, epilepsy, microcephaly, tetralogy of Fallot and hydronephrosis, CLIN DYSMOR, 8(1), 1999, pp. 15-18
Citations number
6
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology
Journal title
CLINICAL DYSMORPHOLOGY
ISSN journal
09628827 → ACNP
Volume
8
Issue
1
Year of publication
1999
Pages
15 - 18
Database
ISI
SICI code
0962-8827(199901)8:1<15:TBWVCO>2.0.ZU;2-B
Abstract
We report on a sib pair who manifest a pattern of anomalies which appears t o be unique and for which me are unable to provide a cytogenetic or molecul ar genetic explanation. While a number of their physical features are disti nct, their overall appearance and pattern of neurological impairment sugges t they suffer from the same genetic disorder. Clin Dysmorphol 8: 15-18 (C) 1999 Lippincott Williams & Wilkins.