Diagnostic problems in a case with mucometrocolpos, polydactyly, congenital heart disease, and skeletal dysplasia

Yapar, Elif Gül; Ekıcı, Eyüp; ̄du, Tug ̄rul Aydog; Senses, Erhan; Gökmen, Oya

doi:10.1002/(sici)1096-8628(19961218)66:3<343::aid-ajmg19>3.0.co;2-m

Cited by 17 publications

(11 citation statements)

References 19 publications

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“…Oral, facial, digital, and skeletal anomalies are consistent findings in both SRP and OFD syndromes [Neri et al, 1995]. Pathogenetic similarity is further supported by a number of patients with transitional phenotypes [Hingorani et al, 1991;Muenke et al, 1991;Sharma et al, 1992;Franceschini et al, 1995;Yapar et al, 1996]. In addition, clinical observations suggest that SRP syndromes may be part of a continuous spec- trum ranging from prenatally lethal SRP to milder cases of Jeune and EVC syndromes [Brueton et al, 1990;Bronstein et al, 1994;Franceschini et al, 1995].…”

Section: Discussionmentioning

confidence: 76%

“…This syndrome is lumped within the short rib-polydactyly (SRP) syndromes, together with Jeune syndrome and the I to IV subgroups of lethal SRP syndromes [Beighton et al, 1992]. A clinical overlap has been established between SRP syndromes and oral-facial-digital (OFD) syndromes [Franceschini et al, 1995;Neri et al, 1995], several examples of transitional phenotypes between the OFD and SRP syndromes having been observed [Hingorani et al, 1991;Muenke et al, 1991;Sharma et al, 1992;Franceschini et al, 1995;Yapar et al, 1996]. Oral-facial-skeletal (OFS) phenotype has been proposed as the definition uniting genetic conditions that are suspected to be causally related [Neri et al, 1995].…”

Section: Introductionmentioning

confidence: 99%

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Cardiac malformations in patients with oral-facial-skeletal syndromes: Clinical similarities with heterotaxia

et al. 1999

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Oral-facial-skeletal (OFS) syndromes include short rib-polydactyly (SRP) and oral-facial-digital (OFD) syndromes. Congenital heart defect (CHD), mainly atrioventricular canal defect (AVCD), is a cardinal finding in the Ellis-van Creveld (EVC) syndrome, but it occurs only occasionally in other SRP and OFD syndromes. The cardiac characteristics of all patients with OFS syndromes evaluated at our hospital from January 1986 to April 1997 were analyzed and compared with published reports. Ten patients with EVC syndrome, one with McKusick-Kaufman syndrome, and one with OFD syndrome type II had AVCD. Eight patients (67%) had a common atrium, eight (67%) a persistent left superior vena cava (LSVC) draining into the left atrium because of an unroofed coronary sinus in five (42%), and left-sided obstructive lesions in three (25%). One patient with EVC syndrome had AVCD, common atrium, double outlet right ventricle, persistent LSVC associated with "asplenia syndrome," visceral heterotaxia, and right isomerism. The combination of CHDs found in the personal series of OFS syndromes suggests pathogenetic similarity with heterotaxia syndromes. Published results also corroborate the association between OFS syndromes and CHDs usually occurring in heterotaxia. Molecular studies could shed light on the genetic mechanisms implicated in the cause of the OFS and heterotaxia syndromes.

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Section: Discussionmentioning

confidence: 76%

Section: Introductionmentioning

confidence: 99%

Cardiac malformations in patients with oral-facial-skeletal syndromes: Clinical similarities with heterotaxia

et al. 1999

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“…Associations with syndromic disorders like McKusick-Kaufman, Ellis-van Creveld, or Bardet-Biedl syndrome have also been described. 25,26 Incision of the imperforate hymen immediately after delivery results in complete resolution of the fluid collection. Prenatal diagnosis may improve fetal outcomes and help avoid or alleviate associated complications such as urinary tract injuries or fetal distress.…”

Section: Discussionmentioning

confidence: 99%

Fetal hydrometrocolpos and congenital imperforate hymen: Prenatal and postnatal imaging features

Rodríguez

Gonzalez

Delgado

et al. 2018

J of Clinical Ultrasound

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Congenital imperforate hymen is probably the most common obstructive anomaly of the female reproductive tract. The accumulation of fluid in the genital tract leads to a distended uterus and vagina, causing hydrometrocolpos. Prenatal diagnosis of fetal hydrometrocolpos is uncommon, with only 22 cases reported in the literature and only a few cases of prenatal imaging of this condition available to date. The main ultrasound finding is a fetal pelvic mass posterior to the bladder and anterior to the rectum. We present the case of a 37-week female fetus with a fetal pelvic mass detected in a routine obstetric ultrasound examination, and the correlation between the prenatal and postnatal findings.

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“…This case was secondary to a cloacal anomaly that is frequently accompanied by a urinary tract obstruction, causing hydronephrosis7, 9, 10. Many of these females may present associated malformations and syndromes, such as cloacal dysgenesis sequence, McKusick–Kaufman, Ellis–van Creveld or Bardet–Biedl syndromes11–13.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of fetal hydrometrocolpos secondary to a cloacal anomaly by magnetic resonance imaging

Hayashi

Sago

Kashima

et al. 2005

Ultrasound in Obstet & Gyne

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CASE REPORTA 34-year-old woman, gravida 3 para 0, was referred to our institute at 37 weeks' gestation for evaluation of a fetal abdominal cystic mass. She had conceived by intrauterine insemination with ovulation induction after three spontaneous miscarriages. Because of her history, low-dose aspirin (81 mg/day) was administered in the current pregnancy up to 36 weeks' gestation. A routine fetal ultrasound examination in the second trimester showed no abnormal findings, but at 35 weeks of gestation a cystic mass was detected in the fetal abdomen. Detailed ultrasonography at referral revealed a retrovesical septate hypoechogenic mass measuring 77 × 76 × 73 mm within the fetal abdomen (Figure 1). Bilateral mild hydronephrosis was present, but there was no ascites. Cardiac anatomy and the extremities were normal. It was not possible to visualize the fetal external genitalia by ultrasound due to the late gestation and the sonographic findings were inconclusive. Magnetic resonance imaging (MRI) was then used to perform a detailed evaluation of the fetal abdominal mass. MRI confirmed that the abdominal mass was located in the midline posterior to the bladder and showed that it was connected to the dilated uterine cavity (Figure 2a). The mass was fluid-filled with a mid-plane septum (Figure 2b). A four-chamber appearance consisting of the septate mass and two small uterine cavities was observed (Figure 2c). These findings were consistent with a diagnosis of hydrometrocolpos with septate vagina and uterus didelphys. The rectum was not clearly visible in the T1-weighted image in which the presence of meconium appeared as hyperintense signals (Figure 2d). Although the cystic lesion was large and occupied the fetal abdomen, pulmonary hypoplasia was not observed on MRI.At 38 weeks' gestation a Cesarean section was performed due to the arrest of labor during induction with oxytocin. A female infant weighing 2438 g and with a length of 44 cm, and Apgar scores of 8 and 8 after 1 and 5 min, respectively, was delivered. Physical examination revealed abdominal distension, ambiguous genitalia and anal atresia. However, the face, limbs and digits were normal. There was a single perineal opening through which a urethral catheter was introduced, but

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Diagnostic problems in a case with mucometrocolpos, polydactyly, congenital heart disease, and skeletal dysplasia

Cited by 17 publications

References 19 publications

Cardiac malformations in patients with oral-facial-skeletal syndromes: Clinical similarities with heterotaxia

Cardiac malformations in patients with oral-facial-skeletal syndromes: Clinical similarities with heterotaxia

Fetal hydrometrocolpos and congenital imperforate hymen: Prenatal and postnatal imaging features

Prenatal diagnosis of fetal hydrometrocolpos secondary to a cloacal anomaly by magnetic resonance imaging

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