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A case of hydrometrocolpos and polydactyly.

Sharma D, Murki S, Pratap OT, Irfan G, Kolar G - Clin Med Insights Pediatr (2015)

Bottom Line: It occurs due to blockage of the vagina with accumulation of mucus secretions proximal to the obstacle.These secretions are secondary to intrauterine and postnatal stimulation of uterine and cervical glands by maternal estrogens.Bardet-Biedl syndrome is a well-known combination of hypogonadism, obesity, postaxial polydactyly, renal dysplasia, retinal degeneration, and mental impairment.

View Article: PubMed Central - PubMed

Affiliation: Department of Neonatology, Fernandez Hospital, Hyderabad, India.

ABSTRACT
Neonatal hydrometrocolpos (HMC) is a rare Mullerian duct anomaly with an incidence of 0.006%. It occurs due to blockage of the vagina with accumulation of mucus secretions proximal to the obstacle. These secretions are secondary to intrauterine and postnatal stimulation of uterine and cervical glands by maternal estrogens. A triad of congenital HMC, polydactyly, and cardiac anomalies are the cardinal features of McKusick-Kaufman syndrome, which is also known as hydrometrocolpos-polydactyly syndrome. Bardet-Biedl syndrome is a well-known combination of hypogonadism, obesity, postaxial polydactyly, renal dysplasia, retinal degeneration, and mental impairment. In this case report, we describe a neonate with HMC, polydactyly, and hydronephrosis.

No MeSH data available.


Related in: MedlinePlus

Postaxial polydactyly on the right upper limb (see arrow head).
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Related In: Results  -  Collection


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f3-cmped-9-2015-007: Postaxial polydactyly on the right upper limb (see arrow head).

Mentions: A late preterm, large for gestation, female infant was born to a G4P2A1L2 mother by caesarean section with a birth weight of 3.48 kg at 34 weeks of pregnancy. Baby cried immediately after birth and the Apgar score was 8 at 1 and 5 minutes of life. Maternal antenatal history was uneventful except for subclinical hypothyroidism detected during gestation. On a routine antenatal scan at 30 weeks of gestation, the fetus was diagnosed with right hand postaxial polydactyly (Fig. 1), midline cystic mass measuring 49 × 32 mm with low-level internal echoes behind urinary bladder, distension of Fallopian tube including the fimbrial end (Fig. 2), and minimal quantity of free fluid in the hip. A tentative diagnosis of HMC was made. Hydronephrosis of both kidneys with left pelvic dilatation more than right, echogenic left cortex, and normal right cortex were observed. Examination after birth revealed normal vital organs, no dysmorphism, postaxial polydactyly on right upper limb (Fig. 3), polydactyly on left lower limb (Fig. 4), distended abdomen, and palpable left kidney. No protruding mass from external genitalia. USG abdomen confirmed the diagnosis of bilateral hydroureteronephrosis with HMC. Abdominal CT scan performed before surgery revealed a large cystic area measuring 11.7 × 6 cm, arising from pelvis posterior to the urinary bladder (Figs. 5 and 6). Evaluation of other systems, including brain, heart, and skeletal survey, did not reveal any other malformations. The infant was operated on day 7 of life and the operative findings confirmed vaginal atresia with gross HMC with dilated vagina extending up to the epigastrium and uterus palpable in the right side of epigastrium. Thick viscid secretions were drained from the vagina and drains were placed with suprapubic tube and other across the membrane per vaginum. Infant was discharged at 15 days of age.


A case of hydrometrocolpos and polydactyly.

Sharma D, Murki S, Pratap OT, Irfan G, Kolar G - Clin Med Insights Pediatr (2015)

Postaxial polydactyly on the right upper limb (see arrow head).
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4295912&req=5

f3-cmped-9-2015-007: Postaxial polydactyly on the right upper limb (see arrow head).
Mentions: A late preterm, large for gestation, female infant was born to a G4P2A1L2 mother by caesarean section with a birth weight of 3.48 kg at 34 weeks of pregnancy. Baby cried immediately after birth and the Apgar score was 8 at 1 and 5 minutes of life. Maternal antenatal history was uneventful except for subclinical hypothyroidism detected during gestation. On a routine antenatal scan at 30 weeks of gestation, the fetus was diagnosed with right hand postaxial polydactyly (Fig. 1), midline cystic mass measuring 49 × 32 mm with low-level internal echoes behind urinary bladder, distension of Fallopian tube including the fimbrial end (Fig. 2), and minimal quantity of free fluid in the hip. A tentative diagnosis of HMC was made. Hydronephrosis of both kidneys with left pelvic dilatation more than right, echogenic left cortex, and normal right cortex were observed. Examination after birth revealed normal vital organs, no dysmorphism, postaxial polydactyly on right upper limb (Fig. 3), polydactyly on left lower limb (Fig. 4), distended abdomen, and palpable left kidney. No protruding mass from external genitalia. USG abdomen confirmed the diagnosis of bilateral hydroureteronephrosis with HMC. Abdominal CT scan performed before surgery revealed a large cystic area measuring 11.7 × 6 cm, arising from pelvis posterior to the urinary bladder (Figs. 5 and 6). Evaluation of other systems, including brain, heart, and skeletal survey, did not reveal any other malformations. The infant was operated on day 7 of life and the operative findings confirmed vaginal atresia with gross HMC with dilated vagina extending up to the epigastrium and uterus palpable in the right side of epigastrium. Thick viscid secretions were drained from the vagina and drains were placed with suprapubic tube and other across the membrane per vaginum. Infant was discharged at 15 days of age.

Bottom Line: It occurs due to blockage of the vagina with accumulation of mucus secretions proximal to the obstacle.These secretions are secondary to intrauterine and postnatal stimulation of uterine and cervical glands by maternal estrogens.Bardet-Biedl syndrome is a well-known combination of hypogonadism, obesity, postaxial polydactyly, renal dysplasia, retinal degeneration, and mental impairment.

View Article: PubMed Central - PubMed

Affiliation: Department of Neonatology, Fernandez Hospital, Hyderabad, India.

ABSTRACT
Neonatal hydrometrocolpos (HMC) is a rare Mullerian duct anomaly with an incidence of 0.006%. It occurs due to blockage of the vagina with accumulation of mucus secretions proximal to the obstacle. These secretions are secondary to intrauterine and postnatal stimulation of uterine and cervical glands by maternal estrogens. A triad of congenital HMC, polydactyly, and cardiac anomalies are the cardinal features of McKusick-Kaufman syndrome, which is also known as hydrometrocolpos-polydactyly syndrome. Bardet-Biedl syndrome is a well-known combination of hypogonadism, obesity, postaxial polydactyly, renal dysplasia, retinal degeneration, and mental impairment. In this case report, we describe a neonate with HMC, polydactyly, and hydronephrosis.

No MeSH data available.


Related in: MedlinePlus