title: Growth and nutrition in children with trichothiodystrophy.
abstract: OBJECTIVE
  Trichothiodystrophy (TTD) is a rare autosomal recessive disorder of DNA repair and transcription. Patients have multisystem abnormalities, including alterations in growth and development. This report characterizes the growth and nutritional status of a cohort of children with TTD.
  
  
  METHODS
  Twenty-five patients with TTD were evaluated through a natural history study of patients with DNA repair diseases at the National Institutes of Health. Mean length of follow-up was 2.7 years. Retrospective and prospective data on nutritional status and height/weight were collected.
  
  
  RESULTS
  In general, patients with TTD had considerable abnormalities in growth, with a mean height-for-age z score of -2.75 and a mean weight-for-age z score of -2.60 at baseline clinical evaluation. The median weight-for-length at baseline was, however, 50th percentile and indicators of adequate nutrition such as serum albumin, hemoglobin, and vitamins D and B12 were largely within normal limits. Changes in growth parameters as children aged were characterized by further separation from standard growth curves (change height-for-age z score/year [-0.18 ± 0.42] and weight-for-age z score/year [-0.36 ± 0.51]). Patients who died during follow-up (n = 5) had significantly lower standardized height (P = 0.03) and weight (P = 0.006), weight-for-length (<0.0001), and higher heart rates (P = 0.02) compared with the remainder of the cohort.
  
  
  CONCLUSIONS
  Children with TTD have markedly diminished weight-for-age and height-for-age relative to reference populations. The cause for this stunted growth remains unclear but does not appear to be related to poor nutrient absorption or malnutrition.
authors.affiliation: *Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases †DNA Repair Section, Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
authors.forename: Emily C
authors.initials: EC
authors.lastname: Atkinson
authors.forename: Diana
authors.initials: D
authors.lastname: Thiara
authors.forename: Deborah
authors.initials: D
authors.lastname: Tamura
authors.forename: John J
authors.initials: JJ
authors.lastname: DiGiovanna
authors.forename: Kenneth H
authors.initials: KH
authors.lastname: Kraemer
authors.forename: Colleen
authors.initials: C
authors.lastname: Hadigan
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006128:Growth; D006130:Growth Disorders / Q000453:epidemiology* / Q000209:etiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009752:Nutritional Status; D015995:Prevalence; D011446:Prospective Studies; D012189:Retrospective Studies; D054463:Trichothiodystrophy Syndromes / Q000401:mortality