Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: A phenotype overlapping Stratton-Parker syndrome

Emanuela Spadoni, Claudia Castelnovi, Paola Maraschio, Elisabetta Stacul, Giampiero Beluffi, Mauro Bozzola, Cesare Danesino

Research output: Contribution to journalArticle

Abstract

Stratton and Parker [1989] described a 17-month-old boy with the previously unreported combination of growth hormone (GH) deficiency, Wormian bones, mild developmental delay, brachycamptodactyly, heart defects, kidney hypoplasia, imperforate anus, bilateral cryptorchidism, and facial anomalies. A similar case was later reported by Gabrielli et al. [1994], who suggested the existence of a "Stratton-Parker syndrome." Here, we describe a boy with isolated GH deficiency, body asymmetry, and brachycamptodactyly. At birth, complete anorectal agenesis and cryptorchidism were detected, which required surgical treatment. Radiographic examination showed the presence of bilateral proximal radioulnar subluxation and Kirner anomaly. Brain MRI showed asymmetry of the posterior horns of the lateral ventricles and enlarged cisterna magna. Psychomotor development had been mildly delayed during the first years of life. Due to the unique association of GH deficiency with intestinal, genital, and limbs abnormalities, we believe that our patient may represent a further case of Stratton-Parker syndrome. All patients reported, till date, are sporadic males born to healthy nonconsanguineous parents. X-linked recessive inheritance is a possibility to consider.

Original languageEnglish
Pages (from-to)57-59
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume128 A
Issue number1
Publication statusPublished - Jul 1 2004

Keywords

  • Body asymmetry
  • Bowel atresia
  • Brachydactyly
  • Camptodactyly
  • Cryptorchidism

ASJC Scopus subject areas

  • Genetics(clinical)

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