Dysmorphologic assessment in 115 Mayer-Rokitansky-Küster-Hauser patients

Faustina Lalatta, Francesca Motta, Elisa Restelli, Martina Bellini, Monica Miozzo, Cristina Gervasini, Bruno Dallapiccola, Barbara Gentilin, Luigi Fedele

Research output: Contribution to journalArticlepeer-review

Abstract

Mayer-Rokitansky-Küster-Hauser (MRKH) patients are characterized by congenital aplasia of the uterus and the upper part of the vagina, with normal secondary sexual characteristics. This disorders affects one in 4000-5000 females and it is classified as typical, type I or isolated, and as atypical, type II, manifesting additional malformations. To date, no specific study has addressed the question of facial features in MRKH patients. The aim of this study is to perform a dysmorphological assessment of a large cohort of patients. We studied 115 women referred to our center from 2008 to 2012. Seventy-two percentage (83/115) of our patients showed isolated uterovaginal aplasia (MRKH type I); 32/115 (28%) had other abnormalities including kidney and cardiac defects, skeletal anomalies, and hearing impairment. Auxologic investigations comprised measurements of height, weight, BMI, head circumference, arm span, span to height ratio, hand length, middle finger length, foot length, inner and outer intercanthal distance, and auricle length. All patients had normal measurements, except for the outer canthal distance-inner canthal distance ratio, which was consistent with elongated eyelids. Women with MRKH syndromes do not present a typical facial feature and a dysmorphological examination of all patients seems unnecessary. However, a multidisciplinary approach is useful with respect to explaining the etiology, interpreting test results, and counseling.

Original languageEnglish
Pages (from-to)95-101
Number of pages7
JournalClinical Dysmorphology
Volume24
Issue number3
DOIs
Publication statusPublished - Jun 19 2015

Keywords

  • clinical genetics
  • dysmorphology
  • facial features
  • genital malformations
  • Mayer-Rokitansky-Küster-Hauser syndrome
  • rare disease

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine

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