Two sisters with prenatal growth failure, disproportionate short stature, and feeding difficulties

被引:2
|
作者
Cameron, FM [1 ]
Cameron, AD
Crampin, L
Tolmie, JL
Wilkinson, AG
Donaldson, MDC
机构
[1] Royal Hosp Sick Children, Dept Child Hlth, Glasgow G3 8SJ, Lanark, Scotland
[2] Queen Mothers Hosp, Dept Obstet, Glasgow G3 8SJ, Lanark, Scotland
[3] Glasgow Dent Hosp, Glasgow G2 3JZ, Lanark, Scotland
[4] Royal Hosp Sick Children, Dept Med Genet, Glasgow G3 8SJ, Lanark, Scotland
[5] Royal Hosp Sick Children, Dept Radiol, Glasgow G3 8SJ, Lanark, Scotland
关键词
short stature; prenatal growth failure; facial dysmorphism; feeding problem; nasogastric feeding; skeletal dysplasia;
D O I
10.1097/00019605-199810000-00006
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A familial short stature syndrome is described in two sisters. Clinical features include severe pre- and post-natal growth failure, strider, feeding difficulties in the first 2 years requiring nasogastric feeding and facial dysmorphism reminiscent of Three M syndrome. Intellectual function is normal. Skeletal surveys show short long bones, small square iliac bones, short femoral necks and vertebral bodies which are short in the antero-posterior diameter with narrowing of the interpedicular distance inferiorly. Clin Dysmolphol 7: 269-274 1998 (C) Lippincott Williams & Wilkins.
引用
收藏
页码:269 / 274
页数:6
相关论文
共 50 条
  • [21] Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial
    Blum, Werner F.
    Crowe, Brenda J.
    Quigley, Charmian A.
    Jung, Heike
    Cao, Dachuang
    Ross, Judith L.
    Braun, LeeAnn
    Rappold, Gudrun
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2007, 92 (01): : 219 - 228
  • [22] Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
    Rao, E
    Weiss, B
    Fukami, M
    Rump, A
    Niesler, B
    Mertz, A
    Muroya, K
    Binder, G
    Kirsch, S
    Winkelmann, M
    Nordsiek, G
    Heinrich, U
    Breuning, MH
    Ranke, MB
    Rosenthal, A
    Ogata, T
    Rappold, GA
    NATURE GENETICS, 1997, 16 (01) : 54 - 63
  • [23] Dental maturity in children of short stature -: a two-year longitudinal study of growth hormone substitution
    Krekmanova, L
    Carlstedt-Duke, J
    Marcus, C
    Dahllöf, G
    ACTA ODONTOLOGICA SCANDINAVICA, 1999, 57 (02) : 93 - 96
  • [24] Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
    Ercole Rao
    Birgit Weiss
    Maki Fukami
    Andreas Rump
    Beate Niesler
    Annelyse Mertz
    Koji Muroya
    Gerhard Binder
    Stefan Kirsch
    Martina Winkelmann
    Gabriele Nordsiek
    Udo Heinrich
    Martijn H. Breuning
    Michael B. Ranke
    André Rosenthal
    Tsutomu Ogata
    Gudrun A. Rappold
    Nature Genetics, 1997, 16 : 54 - 63
  • [25] Growth hormone monotherapy versus Combined GH and LHRH analog in 2 sisters with short stature, early pubertal development, and advanced bone age (BA)
    Elsiddig, Sohair
    Soliman, Ashraf
    Alaaraj, Nada
    Khalil, Ahmed
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 432 - 433
  • [26] Severe short stature and Wolf-Hirschhorn syndrome: response to growth hormone in two cases without growth hormone deficiency
    Austin, Devon E.
    Gunn, Alistair J.
    Jefferies, Craig A.
    OXFORD MEDICAL CASE REPORTS, 2015, (02): : 211 - 214
  • [27] FINAL HEIGHTS OF CHILDREN WITH UNTREATED IDIOPATHIC GROWTH FAILURE CONSTITUTIONAL DELAY OF GROWTH AND PUBERTY/NON-GROWTH HORMONE-DEFICIENT SHORT STATURE
    IRIZARRY, L
    BUCHLIS, JG
    MACGILLIVRAY, MH
    PEDIATRIC RESEARCH, 1995, 37 (04) : A91 - A91
  • [28] Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.
    Rappold, GA
    Weiss, B
    Fukami, M
    Rump, A
    Niesler, B
    Mertz, A
    Muroya, K
    Binder, G
    Kirsch, S
    Winkelmann, M
    Nordsiek, G
    Heinrich, U
    Breuning, MH
    Ranke, MB
    Rosenthal, A
    Ogata, T
    Rao, E
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A11 - A11
  • [29] Treatment of Short Stature in Aggrecan Deficient Patients with Recombinant Human Growth Hormone: Two-Year Response
    Muthuvel, Gajanthan
    Alexandrou, Eirene
    Tyzinski, Leah
    Hwa, Vivian
    Dauber, Andrew
    Backeljauw, Philippe
    HORMONE RESEARCH IN PAEDIATRICS, 2021, 94 (SUPPL 2): : 135 - 136
  • [30] Effect of Growth Hormone (GH) therapy on parathyroid hormone metabolism in a girl with GH deficient short stature and chronic renal failure
    Fujisawa, Y
    Kida, K
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 1996, 9 (05): : 555 - 558