Growth hormone deficiency, Wormian bones, dextrocardia, brachycamptodactyly, and other midline defects

Abstract

We report on a 17-month-old boy with Wormian bones, short stature, growth hormone deficiency, developmental delay, brachycamptodactyly, dextrocardia, cryptorchidism, midshaft hypospadias, hypoplastic left kidney, and imperforate anus. This unique combination of abnormalities has not been reported previously.

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

“…Moreover, pituitary hypoplasia and severe developmental delay were found by Elmer et al [1989]; these are not present in Stratton-Parker syndrome. Our patient lacked the high broad forehead and downslanting palpebral fissures of the patient reported by Stratton and Parker [1989]. Our patient is compared to those of Stratton and Parker [1989], Gabrielli et al [1994], and Elmer et al [1989] in Table I, which contrasts the similarities and differences between the patients.…”

“…Our patient lacked the high broad forehead and downslanting palpebral fissures of the patient reported by Stratton and Parker [1989]. Our patient is compared to those of Stratton and Parker [1989], Gabrielli et al [1994], and Elmer et al [1989] in Table I, which contrasts the similarities and differences between the patients. We believe that the combination of GH deficiency with intestinal, cardiac, genital, and limb abnormalities in our patient overlaps with Stratton-Parker syndrome and may represent a further case.…”

“…Till date, only two patients with a reliable diagnosis of Stratton-Parker syndrome have been reported [Stratton and Parker, 1989;Gabrielli et al, 1994]. Both had similar facial features, GH deficiency, multiple Wormian bones, congenital heart defects, bowel malformations, and cryptorchidism.…”

Role of annexin 1 gene expression in mouse craniofacial bone development

“…These data may suggest a link between sex hormones and the annexin system, and in this respect are congruent with other data that have emerged from other studies (Hannon et al, 2003;Wells et al, 2004). Several studies have linked growth factors to the occurrence of nuclear proteins in response to glucocorticoids, sex steroids, parathyroid hormone, and prostaglandin E2, which themselves have well-known effects on bone biology (Stratton and Parker, 1989). The higher BMD values might also be caused by a compensatory mechanism of high expression of the other annexin proteins in the AnxA1 (À/À) mice (Balcerzak et al, 2003;Kirsch, 2005;Hannon et al, 2003;Wells et al, 2004).…”

Glyphosate Exposure in a Farmer’s Family

“…This pattern has rarely been described and overlapped the Stratton-Parker syndrome whose aetiology remains to be discussed [2]. Other pathologies may be concerned such as the Cat-eye syndrome [3].…”