Reference values for height and weight in Prader-Willi syndrome based on 315 patients

Abstract The spontaneous growth of 315 patients (109 girls and 208 boys) with Prader-Willi syndrome (PWS) was analysed in a mixed longitudinal and cross-sectional manner. 33 patients were seen in the department between 1970 and 1994; height and weight of 76 patients from Germany were evaluated by means of a questionnaire with detailed measuring instructions, and 206 definite cases were added from the literature. Mean (±SD) length of newborn babies with PWS was 50.2 ± 2.8 cm (145 boys) and 48.9 ± 3.3 cm (79 girls). Mean weight at birth was 2945 ± 570 g in boys and 2782 ± 594 g in girls. During the 1st year, the children's growth was nearly normal, thereafter short stature was present in approximately 50% of PWS patients. Between 3 and 13 years of age, the 50th percentile for height in PWS is roughly identical with the 3rd percentile in healthy controls. Body weight was normal for all boys and girls during the first 2 years. Thereafter, a rapid weight gain occurred; after an age of 10 years weight-for-height index in nearly all patients exceeded the normal range. The extent of pubertal growth was reduced for the group. Mean adult height was 161.6 ± 8.1 cm (23 males) and 150.2 ± 5.5 cm (21 females). Head circumference for age was normal for boys and girls. Conclusion Reference data on spontaneous development of growth and weight gain of children with Prader-Willi syndrome are described allowing a better counselling of patients and parents.

[1]  J. Tanner.  The Assessment of Growth and Development in Children , 1952, Nutrition reviews.

[2]  VITAL and health statistics in Norway. , 1954, Bulletin of the World Health Organization.

[3]  A. Prader.  Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach myatonieartigem Zustand im Neugeborenenalter. , 1956 .

[4]  H. J. Schneider,et al.  Syndrome of hypotonia-hypomentia-hypogonadism-obesity (HHHO) or Prader-Willi syndrome. , 1968, American journal of diseases of children.

[5]  R. Gorlin,et al.  The Prader-Willi syndrome. , 1969, American journal of diseases of children.

[6]  B. Hall,et al.  Prader-Willi syndrome , 1972 .

[7]  D. W. Smith,et al.  Prader-Willi syndrome. A resumé of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence. , 1972, The Journal of pediatrics.

[8]  Pipes Pl,et al.  Weight control of children with Prader-Willi syndrome. , 1973 .

[9]  Stanley Lemeshow,et al.  Selected body measurements of children 6-11 years. , 1973, Vital and health statistics. Series 11, Data from the National Health Survey.

[10]  V. A. Holm,et al.  Weight control of children with Prader-Willi syndrome. , 1973, Journal of the American Dietetic Association.

[11]  Z. Laron,et al.  PUBERTAL DEVELOPMENT IN THE PRADER‐LABHART‐WILLI SYNDROME , 1978 .

[12]  M. J. R. Healy,et al.  Statistics of Growth Standards , 1978 .

[13]  G. Duc,et al.  Evaluation of perinatal growth. Presentation of combined intra- and extrauterine growth standards for weight, length and head circumference. , 1980, Helvetica paediatrica acta.

[14]  D. Ledbetter,et al.  Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. , 1981, The New England journal of medicine.

[15]  Holm Va,et al.  Growth in the Prader-Willi syndrome. , 1982 .

[16]  M. Rolland-Cachera,et al.  Adiposity indices in children. , 1982, The American journal of clinical nutrition.

[17]  V. A. Holm,et al.  Growth in the Prader-Willi syndrome. , 1982, Birth defects original article series.

[18]  G. Bray,et al.  The Prader‐Willi Syndrome: A Study of 40 Patients and a Review of the Literature , 1983, Medicine.

[19]  E. Winsor,et al.  Prader‐Willi syndrome associated with inversion of chromosome 15 , 1983, Clinical genetics.

[20]  J. Bierich,et al.  [Prader-Labhart-Willi syndrome]. , 1983, Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde.

[21]  S. Bernasconi,et al.  Precocious puberty in a male with Prader-Labhart-Willi syndrome. , 1984, Helvetica paediatrica acta.

[22]  A. Tanae,et al.  High‐resolution cytogenetic studies in patients with Prader‐Willi syndrome , 1986, Clinical genetics.

[23]  V. Stallings,et al.  The effects of naltrexone, an oral beta-endorphin antagonist, in children with the Prader-Willi syndrome. , 1986, The Journal of clinical endocrinology and metabolism.

[24]  R. Ritch,et al.  Coexistence of Prader-Willi syndrome, congenital ectropion uveae with glaucoma, and factor XI deficiency. , 1986, JAMA.

[25]  M. Butler,et al.  Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. , 1986, American journal of medical genetics.

[26]  Darrell M. Wilson,et al.  Growth hormone treatment of short stature in Prader-Willi syndrome , 1986 .

[27]  L. Greenswag,et al.  ADULTS WITH PRADER‐WILLI SYNDROME: A SURVEY OF 232 CASES , 1987 .

[28]  J. Opitz,et al.  An anthropometric study of 38 individuals with Prader-Labhart-Willi syndrome. , 1987, American journal of medical genetics.

[29]  Energy expenditure and body composition in Prader-Willi syndrome , 1988 .

[30]  A. Chudley,et al.  Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome. , 1988, American journal of medical genetics.

[31]  M. Butler,et al.  The use of skinfold measurements to judge obesity during the early phase of Prader-Labhart-Willi syndrome. , 1988, International journal of obesity.

[32]  M. Hayden,et al.  Perinatal and first year follow‐up of patients with Prader‐Willi syndrome: normal size of hands and feet , 1989, Clinical genetics.

[33]  L. Molinari,et al.  Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development. , 1989, Helvetica paediatrica acta. Supplementum.

[34]  M. Ranke.  Disease‐Specific Growth Charts — Do We Need Them? , 1989, Acta paediatrica Scandinavica. Supplement.

[35]  J. Fryns,et al.  Psychological profile and behavioural characteristics in 12 patients with Prader-Willi syndrome. , 1990, Genetic counseling.

[36]  P. Parent,et al.  Prenatal diagnosis of del(15)(q11q13) , 1990, Prenatal diagnosis.

[37]  Comparison of convenient indicators of obesity. , 1990, The American journal of clinical nutrition.

[38]  M. Butler,et al.  NORMATIVE STANDARDS AND COMPARISON OF ANTHROPOMETRIC DATA OF WHITE AND BLACK NEWBORN INFANTS. , 1990, Dysmorphology and clinical genetics : official publication of the Center for Birth Defects Information Services, Inc.

[39]  J. Hoo,et al.  Proximal 15q variant as possible pitfall in the cytogenetic diagnosis of Prader‐Willi syndrome , 1990, Clinical genetics.

[40]  S. Cassidy,et al.  Physical features of Prader-Willi syndrome in neonates. , 1990, American journal of diseases of children.

[41]  A. Forabosco,et al.  Normal size of hands and feet in Prader‐Willi syndrome , 1990, Clinical genetics.

[42]  S. Cassidy,et al.  Cephalometric analysis of the Prader-Willi syndrome. , 1990, American journal of medical genetics.

[43]  L. Shapiro,et al.  Prader‐Willi syndrome and Robertsonian translocations involving chromosome 15 , 1991, Clinical genetics.

[44]  M. Butler,et al.  Anthropometric study with emphasis on hand and foot measurements in the Prader‐Willi syndrome: sex, age and chromosome effects , 1991, Clinical genetics.

[45]  Tj Cole,et al.  Weight-stature indices to measure underweight, overweight and obesity , 1991 .

[46]  M. Butler,et al.  Standards for selected anthropometric measurements in Prader-Willi syndrome. , 1991, Pediatrics.

[47]  J. Mackenzie.  Anaesthesia and the Prader–Willi Syndrome , 1991, Journal of the Royal Society of Medicine.

[48]  J. Hamerton,et al.  Molecular and clinical overlap of Angelman and Prader-Willi syndrome phenotypes. , 1991, American journal of medical genetics.

[49]  S. Cassidy,et al.  Hand and foot length in Prader-Willi syndrome. , 1988, American journal of medical genetics.

[50]  M. Castro-Magana,,et al.  Pituitary Evaluation and Growth Hormone Treatment in Prader-Willi Syndrome , 1991 .

[51]  H. Shima,et al.  [Prader-Willi syndrome associated with chromosomal aberration: report of a case]. , 1992, Hinyokika kiyo. Acta urologica Japonica.

[52]  M. Qumsiyeh,et al.  Deletion of chromosome 15pter-->q11.2 due to t(Y;15) in a boy with Prader-Willi syndrome. , 1992, American journal of medical genetics.

[53]  Y. Seino,et al.  Unique karyotypes in two patients with Prader-Willi syndrome. , 1992, American journal of medical genetics.

[54]  H. Smeets,et al.  Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. , 1992, The New England journal of medicine.

[55]  K. Widhalm,et al.  [Effect of psychotherapeutic interventions on weight reduction and personality development of a 13-year-old boy with Prader-Willi syndrome]. , 1992, Klinische Pädiatrie.

[56]  P. Davies,et al.  Assessment of body composition in the Prader-Willi syndrome using bioelectrical impedance. , 1992, American journal of medical genetics.

[57]  N. Tommerup,et al.  Prader-Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13. , 1992, American journal of medical genetics.

[58]  A. Rosenbloom,et al.  Effects of Growth Hormone in Prader-Willi Syndrome , 1993, Clinical pediatrics.

[59]  E. Ghigo,et al.  Growth hormone (GH) response to combined pyridostigmine and GH-releasing hormone administration in patients with Prader-Labhard-Willi syndrome. , 1993, Hormone research.

[60]  V. A. Holm,et al.  Effects of Growth Hormone in Prader-Willi Syndrome , 1993, Clinical pediatrics.

[61]  R. Nicholls,et al.  Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. , 1993, American journal of medical genetics.

[62]  M. Butler,et al.  Prader-Willi syndrome: consensus diagnostic criteria. , 1993, Pediatrics.

[63]  I. Lerer,et al.  Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms. , 1994, American journal of medical genetics.

[64]  W. Dietz,et al.  Guidelines for overweight in adolescent preventive services: recommendations from an expert committee. The Expert Committee on Clinical Guidelines for Overweight in Adolescent Preventive Services. , 1994, The American journal of clinical nutrition.

[65]  J. Stephenson,et al.  The Prader-Willi syndrome. , 1994, Archives of disease in childhood.

[66]  I. Ricketts,et al.  Body mass index centile charts to assess fatness of British children. , 1995, Archives of disease in childhood.

[67]  C. Hardy,et al.  A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome. , 1995, Journal of medical genetics.

[68]  I. Young.  Diagnosing Prader-Willi syndrome , 1995, The Lancet.

[69]  B. Horsthemke,et al.  DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. , 1995, Journal of medical genetics.

[70]  E. Ghigo,et al.  GH Secretion in Prader-Labhard-Willi Syndrome: Somatotrope Responsiveness to GHRH is Enhanced by Arginine but not by Pryidostigmine , 1996, Journal of pediatric endocrinology & metabolism : JPEM.

[71]  D. J. Driscoll,et al.  Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. , 1997, American journal of medical genetics.

[72]  S. Schwartz,et al.  Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15. , 1997, American journal of medical genetics.

[73]  S. Buoni,et al.  Growth hormone secretion in Prader-Willi syndrome , 1998, Journal of endocrinological investigation.

[74]  W. Greulich,et al.  Radiographic Atlas of Skeletal Development of the Hand and Wrist , 1999 .