Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: a rare autosomal recessive syndrome.
Nine cases with the hydrometrocolpospolydactyly syndrome (4 males, 5 females) from four unrelated families are presented. Leading symptoms of this rare disorder were hydrocolpos and postaxial polydactyly. Three affected girls had urinary hydrocolpos without vaginal septum or imperforate hymen, one had partial vaginal atresia, and one had no hydrometrocolpos. Glandular hypospadias and prominent scrotal raphe are added to the spectrum of malformations in this disorder in males. The literature is reviewed and problems in genetic counseling in this autosomal recessive disorder are discussed.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005817:Genetic Counseling; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D007021:Hypospadias / Q000150:complications; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014551:Urinary Tract / Q000002:abnormalities*; D014599:Uterus / Q000002:abnormalities*; D014621:Vagina / Q000002:abnormalities*