title: Dysmorphologic assessment in 115 Mayer-Rokitansky-Küster-Hauser patients.
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.
authors.affiliation: aMedical Genetics Unit bObstetric and Gynecology Unit cDepartment of Clinical/Surgical Pathophysiology and Organ Transplant, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico dMedical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milano eBambino Gesù Children Hospital, IRCCS, Rome, Italy.
authors.forename: Faustina
authors.initials: F
authors.lastname: Lalatta
authors.forename: Francesca
authors.initials: F
authors.lastname: Motta
authors.forename: Elisa
authors.initials: E
authors.lastname: Restelli
authors.forename: Martina
authors.initials: M
authors.lastname: Bellini
authors.forename: Monica
authors.initials: M
authors.lastname: Miozzo
authors.forename: Cristina
authors.initials: C
authors.lastname: Gervasini
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Barbara
authors.initials: B
authors.lastname: Gentilin
authors.forename: Luigi
authors.initials: L
authors.lastname: Fedele
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D001837:Body Weights and Measures; D000013:Congenital Abnormalities / Q000473:pathology*; D019465:Craniofacial Abnormalities / Q000209:etiology / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008875:Middle Aged; D009095:Mullerian Ducts / Q000002:abnormalities* / Q000473:pathology; D014599:Uterus / Q000002:abnormalities / Q000473:pathology; D014621:Vagina / Q000002:abnormalities / Q000473:pathology