Premium
Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: A phenotype overlapping Stratton–Parker syndrome
Author(s) -
Spadoni Emanuela,
Castelnovi Claudia,
Maraschio Paola,
Stacul Elisabetta,
Beluffi Giampiero,
Bozzola Mauro,
Danesino Cesare
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30037
Subject(s) - imperforate anus , medicine , agenesis , hypoplasia , psychomotor retardation , camptodactyly , renal agenesis , anatomy , endocrinology , pathology , kidney , alternative medicine
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. © 2004 Wiley‐Liss, Inc.