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

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.

Two cases of birth defects overlapping Stratton-Parker syndrome after multiple pesticide exposure: Table 1

“…These disorders are rarely encountered together in the same person or family. However, in some cases they have been grouped with other symptoms under Stratton-Parker syndrome, the aetiology of which remains unknown 1 2. Stratton-Parker syndrome symptoms noticeably overlap those found in our cases (table 1).…”

“…Stratton-Parker syndrome symptoms noticeably overlap those found in our cases (table 1). As only males have been affected to date and all cases have occurred sporadically, some authors propose an X-linked recessive inheritance 2. As in our cases there are no known familial antecedents or genetic origins identified to date, an environmental origin can be postulated.…”