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
  • [1] The aetiology of growth failure in psychosocial short stature
    Stanhope, R
    Gohlke, B
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2003, 16 (03): : 365 - 366
  • [2] Short stature of prenatal origin: craniofacial growth and dental maturation
    van Erum, R
    Mulier, M
    Carels, C
    de Zegher, F
    EUROPEAN JOURNAL OF ORTHODONTICS, 1998, 20 (04) : 417 - 425
  • [3] DISPROPORTIONATE GROWTH OF LOWER-EXTREMITIES - MAJOR DETERMINANT OF SHORT STATURE IN TURNERS SYNDROME
    NEUFELD, ND
    LIPPE, BM
    KAPLAN, SA
    AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1978, 132 (03): : 296 - 298
  • [4] Short stature of prenatal origin: Craniofacial growth and dental maturation.
    Van Erum, R
    Mulier, G
    Carels, C
    De Zegher, F
    JOURNAL OF DENTAL RESEARCH, 1998, 77 : 761 - 761
  • [5] Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature
    Rappold, GA
    Fukami, M
    Niesler, B
    Schiller, S
    Zumkeller, W
    Bettendorf, M
    Heinrich, U
    Vlachopapadoupoulou, E
    Reinehr, T
    Onigata, K
    Ogata, T
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2002, 87 (03): : 1402 - 1406
  • [6] Report Novel Inactivating Homozygous PAPSS2 Mutation in Two Siblings With Disproportionate Short Stature
    Perez-Garcia, E. Melissa
    Whalen, Philip
    Gurtunca, Nursen
    AACE CLINICAL CASE REPORTS, 2022, 8 (02): : 89 - 92
  • [7] Etiologies and Early Diagnosis of Short Stature and Growth Failure in Children and Adolescents
    Rogol, Alan D.
    Hayden, Gregory F.
    JOURNAL OF PEDIATRICS, 2014, 164 (05): : S1 - U33
  • [8] Children with Short Stature and Growth Failure: Heightism, Gender and Racial Disparities
    Lipman, Terri H.
    McCurry, Ian J.
    PEDIATRIC ENDOCRINOLOGY REVIEWS PER, 2017, 14 : 472 - 477
  • [9] A Novel GMPPA Mutation in Two Adult Sisters with Achalasia, Alacrima, Short Stature, Dysmorphism, and Intellectual Disability
    Benitez, Edmar O.
    Morales, Juan J.
    Munoz, Luis A.
    Huebner, Christian A.
    Mutchinick, Osvaldo M.
    MOLECULAR SYNDROMOLOGY, 2018, 9 (02) : 110 - 114
  • [10] New syndrome?: 46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters
    Hisama, FM
    Zemel, S
    Cherniske, EM
    Vladutiu, GD
    Pober, BR
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 98 (02): : 121 - 124