Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome.
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.
Spadoni
Emanuela
E
Dipartimento di Patologia Umana ed Ereditaria, Sezione di Biologia Generale e Genetica Medica, Università degli Studi di Pavia, Via Forlanini 14, 27100 Pavia, Italy.
Castelnovi
Claudia
C
Maraschio
Paola
P
Stacul
Elisabetta
E
Beluffi
Giampiero
G
Bozzola
Mauro
M
Danesino
Cesare
C
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
D013006:Growth Hormone