[McKusick-Kaufman syndrome: diagnostic and therapeutic problems].
Mc Kusick-Kaufman Syndrome (SMK) is an autosomal recessive multiple malformation Syndrome characterized by hydrometrocolpos and polydactyly. This Syndrome is more frequent in females, whose parents are first-degree cousins (frequency 1:8 liveborn). We describe two cases of SMK: a male and a female. Patients were siblings and their parents were first cousins. The first child presented postaxial hexadactily, of the hands and feet, cardiovascular malformation and Arnold-Chiari II malformation. The baby died on the 17th day of life, for neurosurgical complications. Second baby, in which a prenatal ultrasonography showed a large cystic dilatation in the pelvis, presented with urinary hydrometrocolpos associated with persistent urogenital sinus (UGS) and polydactyly. The patient was temporary treated with intermittent vaginal catheterization. At age of 6 months she underwent reconstructive surgery via the anterior sagittal transanorectal approach (ASTRA), previous creation of a colostomy. Thirty-two months of the operation, the patient is continent for stool and urine and the vagina looks normal.
Arena
F
F
Istituto di Chirurgia Pediatrica e Genetica Medica, Università di Messina, Italia.
Cordaro
S
S
Romeo
C
C
Scalfari
G
G
Gitto
L
L
Barbalace
M
M
Romeo
G
G
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics / Q000601:surgery; D003125:Colostomy; D003241:Consanguinity; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D017689:Polydactyly; D011247:Pregnancy; D013577:Syndrome; D016896:Treatment Outcome; D016216:Ultrasonography, Prenatal; D014564:Urogenital Abnormalities / Q000235:genetics / Q000601:surgery; D014621:Vagina / Q000002:abnormalities / Q000601:surgery