1.
Clin Dysmorphol
; 6(2): 99-109, 1997 Apr.
Article
in English
| MEDLINE
| ID: mdl-9134289
ABSTRACT
We report a child in whom we observed markedly increased genome-wide spontaneous chromosomal breakage in both leucocytes and fibroblasts associated with severe growth retardation, radial aplasia, leucopenia, mild hydrocephalus and an unusual trichodystrophy. Exposure to DNA cross-linking agents diepoxybutane, mitomycin-C and mustine hydrochloride in this case did not result in the increased chromosome breakage seen in Fanconi anaemia. It may be that this child has a defect in postreplicative DNA repair interacting with the protein components deficient in FA.
Subject(s)
Chromosome Aberrations , Limb Deformities, Congenital , Chromosome Fragility , DNA Repair/genetics , Hair/abnormalities , Hair/ultrastructure , Humans , Infant, Newborn , Karyotyping , Male , Microscopy, Electron
2.
Br Med J
; 4(5993): 387-90, 1975 Nov 15.
Article
in English
| MEDLINE
| ID: mdl-1192084
Subject(s)
Child Health Services , Pediatrics , Adolescent , Child , Child, Preschool , Community Health Services , Education, Medical, Undergraduate , Family Practice , Female , Health Facilities , Health Planning , Humans , Infant , Infant, Newborn , Male , Pediatrics/education , Preventive Medicine , Scotland
3.
Dev Med Child Neurol
; 16(6 Suppl 32): 31-7, 1974 Dec.
Article
in English
| MEDLINE
| ID: mdl-4615012
Subject(s)
Meningomyelocele/complications , Spinal Dysraphism/complications , Urinary Catheterization , Urinary Incontinence/therapy , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Kidney Diseases , Male , Sex Factors , Urinary Catheterization/adverse effects , Urinary Incontinence/etiology , Urinary Tract Infections , Vesico-Ureteral Reflux
4.
Primary ventriculo-peritoneal shunts in treatment of hydrocephalus associated with myelomeningocele.
Arch Dis Child
; 49(2): 112-7, 1974 Feb.
Article
in English
| MEDLINE
| ID: mdl-4593818
Subject(s)
Cerebrospinal Fluid Shunts , Hydrocephalus/surgery , Spinal Dysraphism/complications , Catheterization/adverse effects , Cephalometry , Cerebral Ventricles/surgery , Cerebrospinal Fluid Shunts/adverse effects , Cerebrospinal Fluid Shunts/mortality , Child , Female , Follow-Up Studies , Heart Atria/surgery , Humans , Hydrocephalus/etiology , Infant , Male , Peritoneum/surgery , Postoperative Complications , Spinal Dysraphism/mortality
5.
Arch Dis Child
; 48(9): 676-83, 1973 Sep.
Article
in English
| MEDLINE
| ID: mdl-4270149
Subject(s)
Spinal Diseases/prevention & control , Spinal Dysraphism/surgery , Child , Child, Preschool , Disabled Persons , Follow-Up Studies , Humans , Infant , Infant, Newborn , Intellectual Disability/prevention & control , Kyphosis/prevention & control , Methods , Paralysis/prevention & control , Prognosis , Urinary Incontinence/prevention & control , Urinary Tract/abnormalities , Wheelchairs
6.
Ann Genet
; 16(1): 51-4, 1973 Mar.
Article
in English
| MEDLINE
| ID: mdl-4541809
Subject(s)
Chromosomes, Human, 6-12 and X , Psychomotor Disorders/genetics , Trisomy , Child, Preschool , Dermatoglyphics , Female , Humans , Karyotyping , Pedigree
7.
Dev Med Child Neurol Suppl
; : Suppl 29:55-68, 1973.
Article
in English
| MEDLINE
| ID: mdl-4589974
Subject(s)
Reflex , Spinal Dysraphism/physiopathology , Urinary Bladder, Neurogenic/etiology , Urinary Bladder/physiopathology , Female , Hippurates , Humans , Hydronephrosis/etiology , Infant , Iodine Radioisotopes , Kidney/physiopathology , Lumbosacral Region , Male , Radioisotope Renography , Spinal Dysraphism/complications , Thoracic Vertebrae , Urinary Bladder Neck Obstruction/etiology , Urinary Catheterization , Urography
8.
Paraplegia
; 10(1): 23-8, 1972 May.
Article
in English
| MEDLINE
| ID: mdl-4556987
Subject(s)
Intervertebral Disc Displacement/complications , Paraplegia/etiology , Spinal Cord Diseases/complications , Spinal Cord Injuries/complications , Spinal Cord Neoplasms/complications , Spinal Dysraphism/complications , Spondylitis/complications , Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Myelitis/complications , Sex Factors , United Kingdom , Urinary Bladder, Neurogenic
9.
Paraplegia
; 9(4): 219-23, 1972 Feb.
Article
in English
| MEDLINE
| ID: mdl-4551527
10.
Arch Dis Child
; 46(248): 539-48, 1971 Aug.
Article
in English
| MEDLINE
| ID: mdl-4935622
Subject(s)
Spinal Dysraphism/diagnosis , Brain/physiopathology , Female , Humans , Infant, Newborn , Leg/abnormalities , Male , Muscle Spasticity/etiology , Neurologic Examination , Prognosis , Spinal Cord/abnormalities , Spinal Cord/physiopathology , Spinal Dysraphism/complications , Spinal Dysraphism/physiopathology
11.
Brain
; 90(4): 851-62, 1967 Dec.
Article
in English
| MEDLINE
| ID: mdl-6075815
