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Case Reports
. 2015 Jan 14:9:7-11.
doi: 10.4137/CMPed.S20787. eCollection 2015.

A case of hydrometrocolpos and polydactyly

Deepak Sharma  1 , Srinivas Murki  1 , Oleti Tejo Pratap  1 , Gm Irfan  2 , Geeta Kolar  3
Affiliations
Case Reports

A case of hydrometrocolpos and polydactyly

Deepak Sharma et al. Clin Med Insights Pediatr. .

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.

Keywords: Bardet–Biedl syndrome; McKusick–Kaufman syndromes; hydrometrocolpos; polydactyly.

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Figures

Figure 1
Figure 1
Antenatal scan showing polydactyly.
Figure 2
Figure 2
Antenatal scan showing dilatation of fallopian tubes. Also note that the uterine cavity is filled with the secretions.
Figure 3
Figure 3
Postaxial polydactyly on the right upper limb (see arrow head).
Figure 4
Figure 4
Polydactyly on the left lower limb (see arrow head).
Figure 5
Figure 5
(A and B) CT scan showing large cystic area in pelvis and abdomen arising from pelvis posterior to urinary bladder measuring 11.7 × 6 cm with moderate hydroureteronephrosis of bilateral kidney.
Figure 6
Figure 6
CT scan showing large cystic area in pelvis and abdomen arising from pelvis posterior to urinary bladder measuring 11.7 × 6 cm with moderate hydroureteronephrosis of bilateral kidney.
See this image and copyright information in PMC

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