title: 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.
authors.affiliation: Dipartimento di Patologia Umana ed Ereditaria, Sezione di Biologia Generale e Genetica Medica, Università degli Studi di Pavia, Via Forlanini 14, 27100 Pavia, Italy.
authors.forename: Emanuela
authors.initials: E
authors.lastname: Spadoni
authors.forename: Claudia
authors.initials: C
authors.lastname: Castelnovi
authors.forename: Paola
authors.initials: P
authors.lastname: Maraschio
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Stacul
authors.forename: Giampiero
authors.initials: G
authors.lastname: Beluffi
authors.forename: Mauro
authors.initials: M
authors.lastname: Bozzola
authors.forename: Cesare
authors.initials: C
authors.lastname: Danesino
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D001003:Anal Canal / Q000002:abnormalities*; D003456:Cryptorchidism / Q000235:genetics; D002658:Developmental Disabilities; D013006:Growth Hormone / Q000172:deficiency*; D006226:Hand Deformities / Q000235:genetics*; D006801:Humans; D007018:Hypopituitarism; D008297:Male; D010641:Phenotype; D012007:Rectum / Q000002:abnormalities*; D013577:Syndrome
chemical_list: D013006:Growth Hormone